Trisomy 22 is rare trisomy which is usually associated with intra-uterine fetal demise.


NOTE: Trisomy 22 needs to be distinguished from trisomy 22 mosaicism and partial trisomy 22.


Common findings:

(1) intra-uterine fetal demise

(2) intra-uterine growth retardation

(3) oligohydramnios

(4) cardiac and/or aortic arch anomalies

(5) cleft palate

(6) renal anomalies

(7) genital anomalies

(8) imperforate anus and/or other gut anomalies


Other findings

(9) neck webbing

(10) long or hypoplastic digits

(11) hydrocephalus or microcephaly

(12) craniofacial asymmetry

(13) prominent beaked nose

(14) long philtrum

(15) micrognathia


If the affected infant survives then problems include:

(1) growth retardation

(2) mental retardation

(3) strabismus


The risk of recurrence is about 1 in 100.


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