Live-Born Trisomy 22: Patient Report and Review

Abstract

Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient’s clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient’s history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.

Trisomía 22 en un recién nacido de 39 semanas

“…Se ha demostrado que la trisomía 22 completa puede llegar a ser compatible con edades gestacionales tardías y supervivencias posteriores al nacimiento (1). En los últimos 20 años se han reportado 30 casos de trisomía 22 no mosaico completa, de estos casos, 22 nacieron vivos con una esperanza de vida de 4 días (6).…”

“…No obstante, un mosaicismo no detectado confinado a la placenta o en tejidos fetales diferentes a sangre o piel podría explicar los pocos casos de supervivencia que se han reportado (1). El presente caso complementa otros reportes ilustrando que la trisomía 22 parcial puede sobrevivir más allá del nacimiento.…”

“…La trisomía 22 es la tercera trisomía causante de abortos espontáneos en el primer trimestre de embarazo, sin embargo es un síndrome raro en nacidos vivos con una incidencia de 1/ 30.000-50.000 (1,2). El diagnóstico en el segundo o tercer trimestre es inusual, resulta del estudio de una restricción del crecimiento intrauterino con o sin malformaciones anatómicas y se caracteriza por retardo mental severo, dismorfismo facial y retraso en el neurodesarrollo con una esperanza de vida limitada (3).…”

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

“…Liveborn infants with non-mosaic trisomy 22 are extremely rare, and the average survival is four days [Heinrich et al, 2013]. To date, only 29 cases have been reported [Heinrich et al, 2013].…”

“…Liveborn infants with non-mosaic trisomy 22 are extremely rare, and the average survival is four days [Heinrich et al, 2013]. To date, only 29 cases have been reported [Heinrich et al, 2013]. Characteristic clinical findings in liveborn trisomy 22 infants include intrauterine growth restriction (IUGR), microcephaly, midface hypoplasia, hypertelorism, epicanthal folds, low-set, abnormal ears with pits and/or tags, micrognathia, and cleft lip and palate.…”