Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.
We describe a male neonate with a duplication of 4(q31.3qter) due to unbalanced segregation of a maternal translocation (4;5)(31.3;p15.1). He has a high broad nasal bridge, large, low-set ears, epicanthal folds, long philtrum, retrognathia, high arched palate, wide-spaced nipples, bilateral single transverse palmar creases, bilateral clinodactyly of the fifth finger, right cryptorchidism, and ventricular and secundum type atrial septal defect.
Senses
D A
DA
Department of Pediatrics, Düzce University, School of Medicine, Düzce, Turkey. sensesdali@yahoo.com
Silan
F
F
Uzun
H
H
Alagöz
D
D
Zafer
C
C
Kocabay
K
K
Karaüzüm
S B
SB
Cetin
Z
Z
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*