Work

VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality

Year: 2015

Type: article

Abstract: The acronym VACTERL describes the non-random co-occurrence of three of the following anomalies: vertebral (V), anal (A), cardiac (C), tracheoesophageal fistula with or without oesophageal atresia (TE), renal (R) and limb defects (L). Here, we report a newborn baby with VACTERL-type anomalies along with a single umbilical artery. The additional interesting findings include development dysplasia of the right hip, dislocation of the left knee and the left club foot. The karyotype revealed 46, X,i (Yp), i.e. deletion in the long arm, while duplication in the short arm of the Y chromosome (isochromosome Yp), which has never been previously reported in VACTERL association.

Source: Oxford Medical Case Reports

DOI: 10.1093/omcr/omu062

Author: M. Bhagat

Institutions: K. J. Somaiya Hospital & Research Centre, K J Somaiya Medical College

Language: English

Topic: Congenital gastrointestinal and neural anomalies

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,103