Mosaic trisomy 14

Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.

Micrognathia

Developmental hypoplasia of the mandible.

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PMID (PMCID)
21857505	FEMALE	Adult
	Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult.
	Fagerberg CR, Eriksen FB, Thormann J, Ostergaard JR. Clin Dysmorphol. 2012;21(1):45-7.
	Trisomy 14 mosaicism is a well-known but rare chromosomal defect with most frequently reported features being growth retardation, psychomotor retardation, broad nose, dysplastic and/or apparently low set ears, micrognathia, short neck, congenital heart disease and, in males, micropenis and cryptorchidism.