Multiple congenital anomalies in association with supernumerary chromosome 47 inherited from a maternal balanced translocation.
Tertiary trisomy is uncommon and may arise only when one of the derivatives is small and, in the abnormal individual with karyotype 47, exists as a supernumerary derivative chromosome (+der). We describe a case of 47, XY, +der(9)t(5;9) (q33.1;q13)mat. The patient (a 1-day-old male) presented with multiple congenital anomalies including microcephaly, wide fontanelles and sutures, microphthalmia, deep-set eyes, short palpebral fissures, bulbous nose, wide nasal bridge, high arched palate, low-set and posteriorly rotated ears, micrognathia, short neck, ptosis, patient ductus arteriosus, hypoplastic external genitalia, cryptorchidism, inguinal hernia, flexion contractures of joints, short stature, clenched hands, rocker-bottom feet, simian crease, distal mottling of the skin, nail hypoplasia, hypoplasia of bones and hydrocephalus. The supernumerary derivative chromosome resulted from a meiotic recombination of a maternal balanced translocation, t(5;9) (q33.1;q13), suggesting that 3:1 disjunction in the oocyte occurred.
Su
Pen-Hua
PH
Department of Pediatrics, Chung Shan Medical University Hospital.
Chen
Jia-Yuh
JY
Hung
Huei-Mei
HM
Chen
Jung-Pin
JP
Wang
Ching-Ming
CM
Chen
Suh-Jen
SJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy