Abstract
We report on a neonate with multiple congenital anomalies and hydranencephaly. His chromosome constitution was 46,XY, del(13)(q22). This case further delineates the phenotypic variation of deletion distal 13q- syndrome.
MeSH terms
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Abnormalities, Multiple / genetics*
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Chromosome Deletion*
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Chromosomes, Human, Pair 13*
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Humans
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Hydranencephaly / genetics*
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Infant, Newborn
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Karyotyping
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Male
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Penis / abnormalities*
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Scrotum / abnormalities*