<abstract xmlns="http://www.w3.org/1999/xhtml"><bold>Introduction</bold>: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.<bold>Case presentation</bold>: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. The cranial computer tomography showed partial agenesis of the corpus callosum and ventriculomegaly.<bold>Conclusions</bold>: Cytogenetic analysis or molecular techniques are necessary to establish the correct diagnosis in patients with multiple congenital anomalies in association with proximal or distal interstitial 14q deletion.</abstract>

Introduction: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.Case presentation: We present a 3-month-old male patient with dysmorphic features and congenital heart defect associated with a small interstitial deletion of chromosome 14q, identified by cytogenetic analysis as 46,XY,del(14)(q11q12). Dysmorphic features included microcephaly, broad nasal bridge, micrognathia, large and poorly folded auricular lobes and long digits. He also present rectus abdominis diastasis and umbilical hernia. The cranial computer tomography showed partial agenesis of the corpus callosum and ventriculomegaly.Conclusions: Cytogenetic analysis or molecular techniques are necessary to establish the correct diagnosis in patients with multiple congenital anomalies in association with proximal or distal interstitial 14q deletion.

A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

University of Medicine and Pharmacy, Tîrgu Mureș,

Acta Marisiensis - Seria Medica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"A Rare Chromosomal Disorder \u2013 14q Interstitial Deletion Syndrome"}

Introduction: Interstitial deletions of the long arm of chromosome 14q (OMIM 613457) are very rare conditions.Case presentation: We present a 3-month-old male...

A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

Publié en ligne: 21 oct. 2016

Pages: 378 - 380

Reçu: 18 juil. 2016

Accepté: 05 sept. 2016

DOI: https://doi.org/10.1515/amma-2016-0041

Mots clés
chromosome 14q, interstitial deletion, corpus callosum

© 2016 Boglis Alina et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

Publié en ligne: 21 oct. 2016

Pages: 378 - 380

Reçu: 18 juil. 2016

Accepté: 05 sept. 2016

DOI: https://doi.org/10.1515/amma-2016-0041

Mots cléschromosome 14q, interstitial deletion, corpus callosum

© 2016 Boglis Alina et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
chromosome 14q, interstitial deletion, corpus callosum