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Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3)

✍ Scribed by Villa, Amelia; Gomez, Enrique Gal�n; Rodr�guez, Laura; Rastrollo, Ram�n Hern�ndez; Mart�nez Tallo, M. Emilia; Mart�nez-Fr�as, Mar�a-Luisa

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
69 KB
Volume
90
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(20000228)90:5<369::aid-ajmg5>3.0.co;2-y

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✦ Synopsis

A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged to chromosome 6. Although it has been suggested that 6p25 is the critical band involved in the expression of the phenotype of 6p duplication, comparison of the clinical findings of this case with those from the literature cases showed strong similarities.

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