Literature DB >> 8905192

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

R Gershoni-Baruch1, D Zekaria.   

Abstract

We report on a neonate with multiple congenital anomalies and hydranencephaly. His chromosome constitution was 46,XY, del(13)(q22). This case further delineates the phenotypic variation of deletion distal 13q- syndrome.

Entities:  

Mesh：

Year:  1996        PMID： 8905192

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  3 in total

Review 1.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

2.  DELETION MAPPING OF CRITICAL REGION FOR HYPOSPADIAS, PENOSCROTAL TRANSPOSITION AND IMPERFORATE ANUS ON HUMAN CHROMOSOME 13.

Authors:  Nilda M Garcia; Jocelyn Allgood; Lane J Santos; D Lonergan; J R Batanian; Mark Henkemeyer; Oliver Bartsch; Roger A Schultz; Andrew R Zinn; Linda A Baker
Journal:  J Pediatr Urol       Date:  2006-08       Impact factor: 1.830

Review 3.  Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.

Authors:  Piero Pavone; Andrea D Praticò; Giovanna Vitaliti; Martino Ruggieri; Renata Rizzo; Enrico Parano; Lorenzo Pavone; Giuseppe Pero; Raffaele Falsaperla
Journal:  Ital J Pediatr       Date:  2014-10-18       Impact factor: 2.638
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.