chromosome 13q14 deletion syndrome

Disease Overview

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

Synonyms

• Del(13)(q14)
• chromosome 13Q deletion syndrome
• chromosome 13q14 deletion syndrome
• chromosome 13q14 deletion syndrome, isolated cases
• del(13q14)
• deletion 13q14
• monosomy 13q14
• monosomy type 13q14Del(13)(q14)
• chromosome 13Q deletion syndrome
• chromosome 13q14 deletion syndrome
• chromosome 13q14 deletion syndrome, isolated cases
• del(13q14)
• deletion 13q14
• monosomy 13q14
• monosomy type 13q14