NDLI: Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Please wait, while we are loading the content...

Year: 2017 Volume: 173

Year: 2016 Volume: 170

Year: 2016 Volume: 170A

Year: 2015 Volume: 167A

Year: 2015 Volume: 167

Year: 2014 Volume: 164A

Year: 2014 Volume: 164A Issue: 12

Year: 2014 Volume: 164A Issue: 11

Year: 2014 Volume: 164A Issue: 10

X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry.

Modeling AEC-New approaches to study rare genetic disorders.

Future developments in XLHED treatment approaches.

Second International Conference on a classification of ectodermal dysplasias: development of a multiaxis model.

The WNT10A gene in ectodermal dysplasias and selective tooth agenesis.

Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia.

Etiology and pathogenesis of ectodermal dysplasias.

Orodental manifestations in ectodermal dysplasia-a review.

Respiratory problems in patients with ectodermal dysplasia syndromes.

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Copy number variation in bronchopulmonary dysplasia.

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders.

Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.

Delineating the phenotype of 1p36 deletion in adolescents and adults.

Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation.

Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.

Fetal akinesia deformation sequence: expanding the phenotypic spectrum.

An osteosclerotic form of Robinow syndrome.

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.

Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.

Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability.

Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Update on ectodermal dysplasias clinical classification.

Differences in perspective on prognosis and treatment of children with trisomy 18.

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians.

Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD).

Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED).

Facial analysis technology aids diagnoses of genetic disorders: applications narrow down potential genetic syndromes by matching facial phenotypes to distinct set of possible genetic conditions.

Opitz Award winners focus on hemihyperplasia, Kabuki syndrome: winning papers detail array testing for hemihyperplasia, genotype-phenotype differences in KS.

Year: 2014 Volume: 164A Issue: 9

Year: 2014 Volume: 164A Issue: 8

Year: 2014 Volume: 164A Issue: 7

Year: 2014 Volume: 164A Issue: 6

Year: 2014 Volume: 164A Issue: 5

Year: 2014 Volume: 164A Issue: 4

Year: 2014 Volume: 164A Issue: 3

Year: 2014 Volume: 164A Issue: 2

Year: 2014 Volume: 164A Issue: 1

Year: 2013 Volume: 161A

Year: 2012 Volume: 158A

Year: 2011 Volume: 155A

Year: 2010 Volume: 152A

Year: 2009 Volume: 149A

Year: 2008 Volume: 146A

Year: 2007 Volume: 143A

Year: 2006 Volume: 140

Year: 2005 Volume: 139

Year: 2005 Volume: 139A

Year: 2005 Volume: 138

Year: 2005 Volume: 138A

Year: 2005 Volume: 137A

Year: 2005 Volume: 137

Year: 2005 Volume: 136

Year: 2005 Volume: 135

Year: 2005 Volume: 134

Year: 2005 Volume: 134A

Year: 2005 Volume: 133A

Year: 2005 Volume: 132A

Year: 2004 Volume: 128A

Year: 2004 Volume: 124A

Year: 2003 Volume: 123A

Year: 2003 Volume: 121A

Year: 2003 Volume: 118A

Year: 2003 Volume: 116A

Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Quelin, Chloe Spaggiari, Emmanuel Khung-Savatovsky, Suonavy Dupont, Celine Pasquier, Laurent Loeuillet, Laurence Jaillard, Sylvie Lucas, Josette Marcorelles, Pascale Journel, Hubert Pluquailec-Bilavarn, Khantaby Bazin, Anne Verloes, Alain Delezoide, Anne-Lise Aboura, Azzedine Guimiot, Fabien
Description	Country affiliation: France Author Affiliation: Quelin C ( Department of Developmental Biology, AP-HP, Robert Debré University Hospital, Paris and Diderot University, Paris, France)
Abstract	Inversion duplication and terminal deletion of the long arm of chromosome 13 (inv dup del 13q) is a rare chromosomal rearrangement: only five patients have been reported, mostly involving a ring chromosome 13. We report on additional three fetuses with pure inv dup del 13q: Patient 1 had macrosomia, enlarged kidneys, hypersegmented lungs, unilateral moderate ventriculomegaly, and a mild form of hand and feet preaxial polydactyly; Patient 2 had intrauterine growth retardation, widely spaced eyes, left microphthalmia, right anophthalmia, short nose, bilateral absent thumbs, cutaneous syndactyly of toes 4 and 5, bifid third metacarpal, a small left kidney, hyposegmented lungs, and partial agenesis of the corpus callosum; Patient 3 had widely spaced eyes, long and smooth philtrum, low-set ears, median notch in the upper alveolar ridge, bifid tongue, cutaneous syndactyly of toes 2 and 3, enlarged kidneys and pancreas, arhinencephaly, and partial agenesis of the corpus callosum. We compared the phenotypes of these patients to those previously reported for ring chromosome 13, pure 13q deletions and duplications. We narrowed some critical regions previously reported for lung, kidney and fetal growth, and for thumb, cerebral, and eye anomalies.
File Format	HTM / HTML
ISSN	15524825
Issue Number	10
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-10-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Disorders Genetics Pathology Chromosome Inversion Fetus Gene Duplication Chromosome Deletion Chromosomes, Human, Pair 13 Female Genetic Association Studies Humans Male Phenotype Ring Chromosomes Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in