Literature DB >> 1632434

del(18p) syndrome with complex tetralogy of Fallot in an infant with 45,X,t(Y;18)(q12;q11.2).

S el Kalla1, A R Mathews, N S Menon.   

Abstract

We report on an infant with multiple congenital anomalies, tetralogy of Fallot, and Karyotype 45,X,t(Y;18)(q12;11.2). The infant's anomalies are consistent with a del(18p) syndrome, except for the exceptional severity of the heart defect.

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Year:  1992        PMID： 1632434     DOI： 10.1002/ajmg.1320420507

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

Review 1.  Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.

Authors:  Beate Schmidt; Floris Udink ten Cate; Michael Weiss; Udo Koehler
Journal:  Eur J Pediatr       Date:  2012-07       Impact factor: 3.183

2.  Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.

Authors:  R G Hutcheon; A Mallik; M Shaham
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318
  2 in total

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