Mosaic trisomy 22

Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.

Intrauterine growth retardation

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

合計: 2

（表示件数）

PMID (PMCID)
25257307	FEMALE
	Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.
	Kehinde FI, Anderson CE, McGowan JE, Jethva RN, Wahab MA, Glick AR, Sterner MR Jr, Pascasio JM, Punnett HH, Liu J. Am J Med Genet A. 2014;164A(12):3187-93.
	The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies.
15255116	MALE
	Ocular manifestations of mosaic trisomy 22: a case report and review of the literature.
	Thomas S, Parker M, Tan J, Duckett D, Woodruff G. Ophthalmic Genet. 2004;25(1):53-6.
	Patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry.