India-OrthVACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality.
Bhagat M. VACTERL association-type anomalies in a male neonate with a Y-chromosome abnormality. Oxf Med Case Reports. 2015 Jan 10;2015(1):164-6.
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.
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