Deletion (13)(q22) with multiple congenital anomalies, hydranencephaly and penoscrotal transposition

Clinical Dysmorphology

Volumn 5, Issue 4, 1996, Pages 289-294

  Gershoni Baruch, R ^a,b   Zekaria, D ^c  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c NONE

Author keywords

chromosome 13q deletion; hydranecephaly; multiple congenital anomalies

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME DELETION 13; CONGENITAL DISORDER; HUMAN; HUMAN TISSUE; HYDRANENCEPHALY; MALE; NEWBORN; PENIS; PRIORITY JOURNAL; SCROTUM;

EID: 0029767887     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199610000-00002     Document Type: Article

References (31)

1. Allerdice PA, Davis JG, Miller OJ, Klinger HP, Warburton D, Allen FH, Abrams CAL, McGilvray E (1969): The 13q- deletion syndrome. Am J Hum Genet 21: 499-512.
2. Anlar B, Ayabakan S (1986): Transposition of the external genitalia: a case with cardiovascular malformations and polycystic kidneys. Eur J Pediatr 145: 161.
3. Bottani A, Xie YG, Binkert F, Schinzel A (1991): A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2). Hum Genet 87: 748-750.
4. Brown S, Anyane-Yeboa K, Warburton D (1993): Preliminary definition of a 'critical region' of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45: 52-59.
5. Brown S, Russo J, Chitayat D, Warburton D (1995): The 13q syndrome: The molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57: 859-866.
6. Carnevale A, Frias S, Alcantar R (1984): Interstitial deletion of long arm of chromosome 13. Ann Genet 27: 49-52.
7. Cohen-Addad N, Zarafu IW, Hanna MK (1985): Complete penoscrotal transposition. Urology 26: 149-152.
8. Dean JCS, Simpson S, Couzin DA, Stephen GS (1991): Interstitial deletion of chromosome 13: prognosis and adult phenotype. J Med Genet 28: 533-535.
9. Dixon A (1988): Hydranencephaly. Radiography 54: 12-13.
10. Greene MF, Benaceraf B, Crawford JM (1985): US appearance during in utero evolution. Radiology 156: 779-780.
11. Harper C, Hockey A (1983): Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings. Dev Med Child Neurol 25: 232-239.
12. Hoyme HE, Higginbottom MC, Jones KL (1981): Vascular etiology of disruptive structural defects in monozygotic twins. Pediatrics 67: 288-291.
13. Jung JH, Graham JM Jr, Schultz N, Smith DW (1984): Congenital hydranencephaly/porencephaly due to vascular disruption in monozygotic twins. Pediatrics 73: 467-469.
14. Karna P, Kapur S (1994): Diphallus and associated anomalies with balanced autosomal translocation (Case report). Clin Genet 46: 209-211.
15. Kiss P, Osztovics M (1989): Association of 13q and Hirschsprung's disease. J Med Genet 26: 793.
16. Lage JM, Driscoll SG, Bieber FR (1987): Transposition of the external genitalia associated with caudal regression. J Urol 138: 387-389.
17. Lamont MA, Fitchett M, Sennis NR (1989): Interstitial deletion of distal 13q associated with Hirschsprung's disease. J Med Genet 26: 100-104.
18. Lemire RJ, Loeser JD, Leech RW, Alvord EC Jr (1975): "Normal and Abnormal Development of the Human Nervous System". Hagerstown, MD: Harper and Row, pp. 251-255.
19. MacKenzie J, Chitayat D, McLorie G, Balfe JW, Pandit PB, Blecher SR (1994): Penoscrotal transposition: a case report and review. Am J Med Genet 49: 103-107.
20. Niebuhr E, Ottosen J (1973): Ring chromosome D(13) associated with multiple congenital malformations. Ann Genet 1973: 157-166.
21. Noel B, Quack B, Rethore MD (1976): Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 9: 593-602.
22. Schmid W, Muhlethaler JP, Briner J, Knechti H (1975): Ring chromosome 13 in a polymalformed anencephalic. Humangenetik 27: 63-66.
23. Schofield B, Baber A, Punales-Morejon D, Popescu S, Leiter E, Franklin B, Penchaszadeh VB (1992): Double mosaic aneuploidy: 45,X/47,XY+8 in a male infant. Am J Med Genet 42: 7-10.
24. Sutton LN, Bruce DA, Schut L (1980): Hydranencephaly versus maximal hydrocephalus: an important clinical distinction. Neurosurgery 6: 34-38.
25. Tefler MA, Clark CE, Cassey PA, Cowell HR, Stroud HH (1980): Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32-13qter. Clin Genet 17: 428-432.
26. Toomey KE, Mohandas T, Sparkes RS, Kaback MM, Rimoin DL (1978): Segregation of an insertional chromosome rearrangement in three generations. J Med Genet 15: 382-7.
27. Towfighi JRL, Ladda, Sharkey FE (1987): Purkinje cell inclusions and 'atelencephaly' in 13q-chromosomal syndrome. Arch Pathol Lab Med 111: 146-150.
28. Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M (1988): Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am J Med Genet 29: 739-53.
29. Turnock RR, Brereton RJ (1991): Peno-scrotal transposition and the caudal regression syndrome. Eur J Ped Surg 1: 374-375.
30. Weiss A, Margo CE (1987): Bilateral microphtalmos with cyst and 13q deletion syndrome. 105: 29.
31. Vittu G, Croquette MF, Donnai A, Duminy FR, Couturier J, Cousin J (1989): Syndrome polymalformatif lethal avec deletion 13q secondaire a une translocation maternelle X;13. J Genet Hum 37: 141-147.