chromosome 13q14 deletion syndrome
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.
Exact Synonyms
chromosome 13q14 deletion syndrome, isolated cases
chromosome 13q14 deletion syndrome
Del(13)(q14)
del(13q14)
deletion 13q14
monosomy type 13q14
Related Synonyms
chromosome 13Q deletion syndrome
monosomy 13q14
class Information
excluded subClassOf
has exact match
has related match
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