Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20).
We present a 6-year-old Chinese boy with Alagille syndrome and an interstitial 20p deletion, with a karyotype of 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat. He had a peculiar face and suffered from congenital heart disease, growth retardation, severe cholestasis, hepatosplenomegaly, and impaired renal function. The karyotype of his mother showed a balanced translocation, 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13), and her phenotype was normal. His dead elder brother was highly suspected as another victim of Alagille syndrome. The findings in the present family suggested that if Alagille syndrome is a single gene defect, the putative gene responsible for the syndrome would not be located at the insertion breakpoints but located within the deletion extent.
Li
P H
PH
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, Republic of China.
Shu
S G
SG
Yang
C H
CH
Lo
F C
FC
Wen
M C
MC
Chi
C S
CS
D016738:Alagille Syndrome / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D004251:DNA Transposable Elements; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D010375:Pedigree; D011247:Pregnancy
D004251:DNA Transposable Elements