RECURRENT INCREASED NUCHAL TRANSLUCENCY:
A FIRST TRIMESTER PRESENTATION OF
FAMILIAL 13p SATELLITE DELETION
Uzun I, Has R, Alici E, Ozdemir M, İnan C, Erzincan S
*Corresponding Author: Dr. Isil Uzun, Department of Obstetrics and Gynecology, Acibadem Hospital, Halit
Ziya Usakhıgil Street, Bakırkoy, İstanbul, Turkey. Tel: +90-212-414-4400. Fax: +90-212-414-4152. E-mail:
isiluzu@gmail.com
page: 103
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Abstract
Chromosome 13 is one of the acrocentric chromosomes
of the human karyotype. Acrocentric chromosomes
are the most variable chromosomes in the
human karyotype and these variations appear to have
no clinical consequences. To the best of our knowledge,
this is the first reported case of a first trimester
presentation of a 13 short arm satellite deletion with
markedly increased nuchal translucency (NT). In this
case, the 13p short arm satellite deletion was associated
with increased NT in two pregnancies from the
same couple.
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