Chromosome 10, Distal Trisomy 10q

Disease Overview

Chromosome 10, distal trisomy 10q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by unusually slow growth before and after birth); abnormally diminished muscle tone (hypotonia); mild to severe intellectual disability; and mild to severe delays in the acquisition of skills requiring coordination of mental and muscular activities. Affected infants and children may also have distinctive malformations of the head and facial (craniofacial) area; defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. The range and severity of symptoms and physical findings may vary from person to person, depending upon the exact length and location of the duplicated portion of chromosome 10q. In most cases, chromosome 10, distal trisomy 10q is due to a chromosomal balanced translocation in one of the parents.

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Synonyms

• chromosome 10, partial trisomy 10q24-qter
• chromosome 10, trisomy 10q2
• distal duplication 10q
• distal trisomy 10q syndrome
• dup(10q) syndrome

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Subdivisions

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Signs & Symptoms

In individuals with chromosome 10, distal trisomy 10q, an extremely rare chromosomal disorder, the end (distal) portion of the long arm (q) of one chromosome 10 (10q) is duplicated (trisomic). Symptoms and physical characteristics associated with the disorder may vary greatly in range and severity, depending upon the exact size and location of the duplicated portion of chromosome 10q. However, in most patients, the disorder is characterized by mild to severe intellectual disability; distinctive malformations of the head and facial (craniofacial) area; also, there are sometimes defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. It is important to note that affected infants will not have all of the abnormalities listed below.

In most cases, chromosome 10, distal trisomy 10q is characterized by abnormally slow growth before and after birth. In addition, most affected infants and children have mild to severely diminished muscle tone (hypotonia). Some may have abnormal looseness or laxity of the joints (generalized hyperlaxity). Infants and children with chromosome 10, distal trisomy 10q also have mild to severe intellectual disability and may experience profound delays in the acquisition of skills that require coordination of mental and muscular activities).

In addition, infants and children with the disorder have characteristic malformations of the head and facial (craniofacial) area. Such abnormalities may include an abnormally small head (microcephaly) with a high, broad forehead; a round, slightly flattened face; prominent cheekbones; and/or low-set, misshapen ears that may appear rotated toward the back of the head (posteriorly rotated). Affected infants and children may also have a small nose with turned up nostrils (anteverted nares) and a broad, flat, and/or depressed nasal bridge; a small, bow-shaped mouth with a prominent upper lip; an unusually small lower jaw; and/or, in some patients, incomplete closure of the roof of the mouth (cleft palate). Additional features may include unusually fine, highly arched eyebrows; drooping of the upper eyelid(s) (ptosis); abnormal narrowing of the eyelid folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis); and/or vertical skin folds that may cover the eyes’ inner corners (epicanthal folds). In some cases, according to the medical literature, the presence of epicanthal folds may cause the eyes to appear widely spaced (ocular hypertelorism). In addition, in some affected infants and children, the eyes may appear abnormally small (microphthalmia) due to reduced diameter of the cornea, the front, clear portion of the eye through which light passes.

In some cases, infants and children with chromosome 10, distal trisomy 10q also have characteristic malformations of the hands and/or feet. Such abnormalities may include permanent flexion (camptodactyly) and/or overlapping of certain fingers; an unusually large distance between the great toes (hallux) and the second toes; webbing (syndactyly) between the second and third toes; and/or abnormal positioning of the feet (i.e., rocker-bottom feet). Affected infants and children may also have abnormal skin ridge patterns including underdeveloped (hypoplastic) ridge patterns on the hands and feet and/or abnormal deep grooves in the soles of the feet (plantar furrows).

Many infants and children with the disorder may also have additional skeletal abnormalities. Affected individuals may have abnormally thin ribs, 11 rather than 12 rib pairs, an abnormally short neck, abnormal front-to-back and side-to side curvature of the spine (kyphoscoliosis), and/or abnormal depression of the sternum, the bone forming the center of the chest (“funnel chest” or pectus excavatum). Affected infants and children may also exhibit abnormally delayed, immature bone development (delayed bone age). In some cases, underdevelopment (hypoplasia) of the shin bone (tibia) and/or the thigh bone (femur).

Approximately half of infants with chromosome 10, distal trisomy 10q may have defects of the heart that are present at birth (congenital heart defects), respiratory abnormalities, and/or malformations of the kidneys. Symptoms associated with congenital heart defects may vary greatly depending upon the exact nature, size, and location of the anatomical defect present. In some cases, associated symptoms and physical findings may include breathlessness due to the heart’s inability to pump blood effectively (heart failure); easy fatigability; bluish discoloration of the skin and mucous membranes (cyanosis) due to insufficient oxygen supply to these tissues; and/or increased susceptibility to repeated infections of the lungs (pneumonia). Renal malformations associated with chromosome 10, distal trisomy 10q may include underdevelopment of the kidneys (hypoplasia); development of cysts (cystic kidneys); and/or abnormal swelling (distention) of and accumulation of urine in the kidneys (hydronephrosis) and the tubes (ureters) that bring urine to the bladder (hydroureter). In severe cases, cardiac, respiratory, and/or renal abnormalities may result in life-threatening complications during the first years of life.

In some cases, infants and children with chromosome 10, distal trisomy 10q may have additional abnormalities. In approximately half of affected males, one or both of the testes may fail to descend into the scrotum (cryptorchidism).

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Causes

Chromosome 10, distal trisomy 10q is an extremely rare chromosomal disorder in which part of the end (distal) portion of the long arm (q) of one chromosome 10 is duplicated. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22, and an additional 23rd pair of sex chromosomes which include one X and one Y chromosome in males and two X chromosomes in females. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

The duplication of the distal portion of chromosome 10q is responsible for the symptoms and physical features that characterize this disorder. The range and severity of symptoms depend upon the exact length and location of the duplicated portion of chromosome 10q. In individuals with the disorder, the duplicated portion of 10q may begin as high on the chromosome as in band 10q22, or as far down as in band 10q25 and usually extends toward the end or “terminal” portion of chromosome 10q (qter); According to the medical literature, researchers suspect that duplication of bands 10q25 and 10q26 is critical for the expression of the characteristic features associated with the disorder. Often heart and kidney defects are related to the duplication of band 10q24.

In over 90 percent of reported cases, chromosome 10, distal trisomy 10q is due to a chromosomal balanced translocation in one of the parents. A translocation is said to be “balanced” if pieces of two or more chromosomes break off and trade places, creating an altered but balanced set of chromosomes. Balanced translocations are usually harmless to the carrier. However, in some cases, carriers may have reproductive cells (i.e., eggs in females, sperm cells in males) with an “unbalanced” set of chromosomes. Therefore, carriers of a balanced translocation may have an increased risk of having offspring with an unbalanced translocation (i.e., an altered set of chromosomes resulting in extra and/or missing chromosomal material in certain chromosomal locations). Chromosomal testing may determine whether a parent has a balanced translocation. If a child has partial trisomy 10q due to a parental translocation, they may also have a partial monosomy of another chromosome.

In some cases, chromosome 10, distal trisomy 10q may be due to a spontaneous (de novo) genetic change (mutation) that occurs for unknown reasons (sporadic). In such cases, because the mutation is not related to parental chromosomal makeup, the chromosomal abnormality is not inherited from the parents.

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Affected populations

Chromosome 10, distal trisomy 10q is an extremely rare but well-defined chromosomal disorder that appears to affect males and females at about the same rate. More than 35 cases have been reported in the medical literature since the disorder was originally described in 1974 (J.J. Yunis). Many of the symptoms and physical features associated with the disorder are apparent at birth (congenital).

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Disorders with Similar Symptoms

Symptoms of the following disorders may be similar to those of Chromosome 10, Distal Trisomy 10q. Comparisons may be useful for a differential diagnosis:

Chromosome 10, Monosomy 10p is a very rare chromosomal disorder in which the end (distal) portion of the short arm (p) of one chromosome 10 is missing (deleted or monosomic). The disorder is characterized by growth delays and short stature, developmental delays, characteristic abnormalities of the head and facial (craniofacial) area, congenital heart defects, urinary tract malformations, and/or failure of one or both of the testes to descend into the scrotum (cryptorchidism) in affected males. Characteristic craniofacial malformations may include an abnormally small head (microcephaly) with an unusually prominent forehead (frontal bossing); a small, underdeveloped jaw (micrognathia); drooping of the upper eyelid(s) (ptosis); downslanting eyelid folds (palpebral fissures); small, misshapen ears; and/or other abnormalities. In most cases, the disorder is due to a spontaneous (de novo) genetic change (mutation) that occurs for unknown reasons (sporadic). (For more information on this disorder, choose “Monosomy 10p” as your search term in the Rare Disease Database.)

There are additional chromosomal disorders that may be characterized by slow growth before and after birth, intellectual and psychomotor disability, craniofacial abnormalities, malformations of the hands and feet, and/or cardiac, respiratory, and/or renal abnormalities similar to those occurring in association with Chromosome 10, Distal Trisomy 10q. The only way to determine which chromosomal disorder an individual has is through chromosomal testing. (For more information on these disorders, choose the exact disease name in question or “Chromosome” as your search term in the Rare Disease Database.)

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Diagnosis

In some cases, the diagnosis of Chromosome 10, Distal Trisomy 10q may be determined before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and studied. During chorionic villus sampling, a tissue sample is removed from a portion of the placenta. Laboratory studies performed on this fluid or tissue sample may reveal the presence of Distal Trisomy 10q.

Chromosome 10, Distal Trisomy 10q may also be diagnosed and/or confirmed after birth (postnatally) based upon a thorough clinical evaluation, identification of characteristic physical findings, and chromosomal studies. Small trisomies may not be detected on standard chromosomal studies and may require chromosomal microarray analysis.

Certain specific abnormalities that may occur in association with Distal Trisomy 10q may be detected and/or confirmed by specialized imaging studies and/or additional tests. For example, specialized x-ray studies and/or other imaging techniques may be used to confirm and/or characterize certain skeletal abnormalities and/or renal malformations potentially associated with the disorder. Congenital heart defects potentially associated with Chromosome 10, Distal Trisomy 10q may be detected, confirmed, and/or characterized by a thorough clinical evaluation and specialized tests that allow physicians to evaluate the structure and function of the heart (e.g., x-ray studies, electrocardiogram [EKG] echocardiogram, cardiac catherization).

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Standard Therapies

Treatment

The treatment of Chromosome 10, Distal Trisomy 10q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians; surgeons; physicians who specialize in diagnosing and treating skeletal abnormalities (orthopedists), disorders or malformations of the heart (cardiologists), or kidney abnormalities (nephrologists); physical therapists; and/or other health care professionals may need to systematically and comprehensively plan an affected child’s treatment.

The treatment of Chromosome 10, Distal Trisomy 10q is symptomatic and supportive. In some cases, surgery may be performed to correct certain craniofacial, skeletal, cardiac, renal, and/or other malformations that may be associated with the disorder. In such cases, the surgical procedures performed will depend upon the location and severity of the anatomical abnormalities and their associated symptoms.

Physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. Physicians may also regularly monitor affected individuals for such infections to ensure early detection and appropriate, prompt treatment.

A team approach for infants and children with this disorder may be of benefit and may include special medical, educational, and social support services. Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

For information about clinical trials sponsored by private sources, contact: www.centerwatch.com.

For information about clinical trials conducted in Europe, contact: https://www.clinicaltrialsregister.eu/

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References

TEXTBOOKS
Jones KL. Smith’s Recognizable Patters of Human Malformation. 7th ed. Philadelphia, PA: W.B. Saunders Company; 2013:52-53.

Kardon NB. Chromosome 10, Distal Trisomy 10q. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:59.

Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:357-60.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 4th ed. New York, NY: Oxford University Press; 2001:97-98.

JOURNAL ARTICLES
Al-Sarrah Y, Abu Al-Khair H, Ziad Taha R, Khattab, N, El-Sayed Z, Elhusein B, El-Shanti H. Distal trisomy 10q syndrome: report of a patient with duplicated q24.31-qter, autism spectrum disorder, and unusual features. Clin Case Reports. 2014; 2(5):201-205.

Carter MT. Dyack S. Richer J. Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25.1-q26.3. Clin Dysmor. 2010; 19:140-145.

Aglan MS, Kamel AK, Helmy NA. Partial trisomy of the distal part of 10q: A report of two Egyptian cases. Genet Couns. 2008; 19:199-209

Chen CP, Lin SP. Distal trisomy 10q associated with bilateral hydronephrosis in infancy. Genet Couns. 2003;14:359-62.

Hou JW. Chromosomal 10Q26 trisomy resulting from parental T(9;10)(PTER;Q26.1). J Formos Med Assoc. 2003;102:887-92.

Lurie IW. Distal trisomy 10q and limb defects. Ann Genet. 2002;45:127-9.

Migliori MV, Ciaschini AM, Discepoli G, Abbasciano V, Barbato M, Pannone E. Distal trisomy 10q. Report a new case of duplication 10q25.2-25.3-qter defined by FISH. Ann Genet. 2002;45:9-12.

Chen CP, Shih JC, Lee CC, Chen LF, Want W, Wang TY. Prenatal diagnosis of a fetus with distal 10q trisomy. Prenat Diagn. 1999;19:876-8.

Davies J, Jaffe A, Bush A. Distal 10q syndrome with unusual cardiac and pulmonary abnormalities. J Med Genet. 1998;35:72-4.

Halpern GJ, et al. Partial trisomy 10q: further delineation of the clinical manifestations involving the segment 10q23–>10q24. Ann Genet. 1996;39:181-83.

Briscioli V, Floridia G, Rossi E, Selicorni A, Lalatta F, Zuffardi O. Trisomy 10qter confirmed by in situ hybridization. J Med Genet. 1993;30:601-3.

Soekarman D, et al. Extreme growth failure and kyphoscoliosis as complications of the distal trisomy 10q syndrome. Genet Couns. 1992;3:111-13.

Neely K, et al. Ocular findings in partial trisomy 10q syndrome. Am J Ophthalmol. 1988;106:82-87.

Taysi K, et al. Partial trisomy 10q in three unrelated patients. Ann Genet. 1983;26:79-85.

Miro R, et al. Balanced translocation (10; 13) in a father, ascertained through the study of meiosis in semen, and partial trisomy 10q in his son. Characterization of the region responsible for the partial trisomy 10q syndrome. Hum Genet. 1980;53:179-82.

Fryns JP, et al. New chromosomal syndromes. I. Partial trisomy of the distal portion of the long arm of chromosome number 10 (10q24 leads to 10qter): a clinical entity. Acta Paediatr Belg. 1979;32:141-43.

Klep-de Pater JM, et al. Partial trisomy 10q: a recognizable syndrome. Hum Genet. 1979;46:29-40.

Yunis JJ, et al. A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr. 1974;84:567-70.

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