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Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome)

✍ Scribed by Fangrong Zhang; Jean-François Deleuze; Alain Aurias; Anne-Marie Dutrillaux; Rose-Noelle Hugon; Daniel Alagille; Gilles Thomas; Michelle Hadchouel

Book ID
119450514
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
1015 KB
Volume
116
Category
Article
ISSN
1097-6833

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A 46, XX, del(20) (p11) karyotype (Paris Conference, 1971) was identified in an 11-month-old French-Canadian girl with a dysmorphic syndrome, multiple congenital anomalies, psychomotor and growth retardation. Both parents had normal phenotype and karyotype.