Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate.
We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects.
Senses
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DA
Department of Pediatrics, Duzce University School of Medicine, Duzce, Turkey. sensesdali@yahoo.com
Silan
F
F
Uzun
H
H
Zafer
C
C
Ucar-Cavusoglu
E
E
Kocabay
K
K
D061085:Agenesis of Corpus Callosum; D002552:Cerebral Ventricles / Q000473:pathology; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004108:Dilatation, Pathologic; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*