Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)

American Journal of Medical Genetics

Volumn 63, Issue 4, 1996, Pages 537-541

  Li, Pi Hsien ^a   Shu, San Ging ^a   Yang, Ching Hwa ^a   Lo, Feng Chu ^a   Wen, Mei Chin ^a   Chi, Ching Shiang ^a  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Alagille syndrome; arteriohepatic dysplasia; chromosome 20; chromosome deletion; chromosome insertion

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; CASE REPORT; CHILD; CHOLESTASIS; CHROMOSOME 20P; CHROMOSOME 7; CHROMOSOME ANALYSIS; CHROMOSOME INSERTION; CLINICAL EXAMINATION; CONGENITAL HEART DISEASE; GROWTH RETARDATION; HEPATOSPLENOMEGALY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE 46,XX; KIDNEY DISEASE; MALE; PRIORITY JOURNAL;

ALAGILLE SYNDROME; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; DEVELOPMENTAL DISABILITIES; DNA TRANSPOSABLE ELEMENTS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; KARYOTYPING; KIDNEY; LIVER; MALE; PEDIGREE; PREGNANCY;

EID: 0029902080     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<537::AID-AJMG5>3.0.CO;2-L     Document Type: Article

References (18)

1. Alagille D, Odievre M, Gautier M, Dommergues J (1975): Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual developments, and cardiac murmur. J Pediatr 86:63-71.
2. Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Domergues JP (1987): Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases. J Pediatr 110:195-200.
3. Anad F, Burn J, Matthews D, Cross I, Davison BCC, Mueller R, Sands M, Lillington DM, Astham E (1990): Alagille syndrome and deletion of 20p. J Med Gene 27:729-737.
4. Bucuvalas JC, Horn JA, Carlsson L, Balistreri WF, Chernausek SD (1993): Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. J Clin Endocrinol Metab 76: 1477-1482.
5. Byrne JLB, Harrod MLE, Friedman JM, Howard-Peebles PN (1986): Del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet 24:673-678.
6. Desmaze C, Deleuze JF, Dutrillaux AM, Thomas G, Hadchouel M, Aurias A (1992): Screening of microdeletions of chromosome 20 in patients with Alagille syndrome. J Med Genet 29:233-235.
7. Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ (1993): Deletions and microdeletions of 22q111.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-268.
8. LaBrecque DR, Mitros FA, Nathan RJ, Romanchuk KG, Judisch GF, El-Khoury GH (1982): Four generations of arteriohepatic dysplasia. Hepatology 2:467-474.
9. Legius E, Fryns J-P, Eyskens B, Eggerment E, Desmet V, de Bethune G, Van den Berghe H (1990): Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2). Am J Med Genet 35:532-535.
10. Loiodice G, Rovette DG, Bellicini G, Bergamo F (1970): Malformazioni multiple congenite in un bambino portatore di una anomalia cromosomica de gruppo F(46/XY,20-p), figlio di un soggetto, clinicamente sano, affetto da analoga malformazione cromosomica 20. Minerva Pediatr 22:1084-1088.
11. Nicholls RD, Knoll JHM, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D (1989): Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet 33:66-77.
12. Schnittger S, Hofers C, Heidenmann P, Beermann F, Hansmann I (1989): Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum Genet 83:239-244.
13. Shulman SA, Hyams JS, Gunta R, Greenstein RM, Cassidy SB (1984): Arteriohepatic dysplasia (Alagille syndrome): Extreme variability among affected family members. Am J Genet 19:325-332.
14. Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA (1994): Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: Cytogenetic and molecular studies. Am J Hum Genet 55:238-243.
15. Teebi AS, Murthy DSK, Ismail EAR, Redha AA (1992): Alagille syndrome with de novo del(20)(p11.2). Am J Med Genet 42:35-38.
16. Tzakis AG, Reyes J, Tepetes K, Tzoracoleftherakis V, Todo S, Starzl TE (1993): Liver transplantation for Alagille's syndrome. Arch Surg 128:337-339.
17. Watson GH, Miller V (1973): Arteriohepatic dysplasia: Familial pulmonary artery stenosis with neonatal liver disease. Arch Dis Child 48:459-466.
18. Zhang F, Deleuz, Aurias A, Dutrillaux A-M, Hugon R-N, Alagille D, Thomas G, Hadchouel M (1990): Interstitial deletion of the short arm of chromosome 20 in arteriohepatic dysplasia (Alagille syndrome). J Pediatr 116:73-77.