Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

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Disruption of Contactin 4 (CNTN4) Results in Developmental Delay and Other Features of 3p Deletion Syndrome

The American Journal of Human Genetics ◽

10.1016/j.ajhg.2008.04.021 ◽

2008 ◽

Vol 82 (6) ◽

pp. 1385 ◽

Cited By ~ 40

Author(s):

Thomas Fernandez ◽

Thomas Morgan ◽

Nicole Davis ◽

Ami Klin ◽

Ashley Morris ◽

...

Keyword(s):

Developmental Delay ◽

Deletion Syndrome ◽

3P Deletion Syndrome

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A Child with 3p Deletion Syndrome Who Recovered from Influenza-Related Acute Respiratory Distress Syndrome

Istanbul Medical Journal ◽

10.5152/imj.2017.90532 ◽

2017 ◽

Vol 18 (2) ◽

pp. 106-108

Author(s):

Gurkan Atay ◽

Gulsah Kavrul ◽

Manolya Acar ◽

Murat Sutcu ◽

Kemal Nisli ◽

...

Keyword(s):

Acute Respiratory Distress Syndrome ◽

Respiratory Distress Syndrome ◽

Respiratory Distress ◽

Distress Syndrome ◽

Deletion Syndrome ◽

3P Deletion Syndrome

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A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

Journal of Pediatric Genetics ◽

10.1055/s-0038-1677551 ◽

2019 ◽

Vol 08 (03) ◽

pp. 142-146

Author(s):

Trassanee Chatmethakul ◽

Rozaleen Phaltas ◽

Gwen Minzes ◽

Jose Martinez ◽

Ramachandra Bhat

Keyword(s):

Hirschsprung's Disease ◽

Hirschsprung’S Disease ◽

Interstitial Deletion ◽

Intestinal Malrotation ◽

Deletion Syndrome ◽

Gastrointestinal Complications ◽

Dysmorphic Features ◽

Rare Association ◽

Ednrb Gene ◽

Male Neonate

AbstractWe report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervous system malformations. The loss of EDNRB gene in addition to bilateral hearing loss and HSCR suggested an additional diagnosis of Waardenburg–Shah's syndrome. This case highlights the fact that prior knowledge of this rare association in infants with 13q deletion syndrome would enable early diagnosis and prompt interventions to prevent gastrointestinal complications.

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