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Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation

✍ Scribed by Pen-Hua Su; Jia-Yuh Chen; Suh-Jen Chen


Book ID
119344874
Publisher
Elsevier
Year
2011
Tongue
English
Weight
164 KB
Volume
52
Category
Article
ISSN
1875-9572

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A de novo apparently balanced translocation involving chromosomes 8 and 20 was found in a 14-year-old boy with minor anomalies, mild skeletal abnormalities and ambiguous external genitalia including perineoscrotal hypospadias, rudimentary fused labioscrotal folds, bilateral cryptorchidism, and small