NDLI: Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

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

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

Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.

Ruptured omphalocele mimicking gastroschisis in a fetus with Edwards syndrome.

Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Genetic services and attitudes in primary care pediatrics.

A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.

Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.

Partial trisomy 1q41-qter and partial trisomy 9pter-9q21.32 in a newborn infant: an array CGH analysis and review.

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.

WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.

Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.

Airway malacia in children with achondroplasia.

Medial defects of the small pulmonary arteries in fatal pulmonary hypertension in infants with trisomy 13 and trisomy 18.

Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications.

Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasia.

An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome.

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

Genetic drift. Lucky.

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies.

Multiple café au lait spots in familial patients with MAP2K2 mutation.

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

The childless man.

Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum.

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.

Surgical intervention for esophageal atresia in patients with trisomy 18.

After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population.

Our children are not a diagnosis: the experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18.

Hypoglycemia in Kabuki syndrome.

Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Hepatoblastoma in a 15-month-old female with trisomy 13.

A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Orthopedics management of acromicric dysplasia: Follow up of nine patients

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

A description of spina bifida cases and co-occurring malformations, 1976-2011.

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.

WNT10A mutations account for » of population-based isolated oligodontia and show phenotypic correlations.

1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay.

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.

Patients and families generally welcome secondary genomic findings: support for return of incidental findings may encourage shift toward predictive genetic testing.

Court ruling invalidates patent on noninvasive test for down syndrome: decision cites landmark Supreme Court ruling in Myriad Genetics case.

Familial microduplication of 17q23.1q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

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

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	So, Joyce Stockley, Tracy Stavropoulos, Dimitri J.
Description	Country affiliation: Canada Author Affiliation: So J ( Department of Clinical Genetics, Lakeridge Health Oshawa, Oshawa, Ontario, Canada)
Abstract	Jacobsen syndrome (JS) is a disorder of developmental delay, growth retardation, thrombocytopenia, dysmorphic features, and cardiac abnormalities, among other congenital anomalies. JS is caused by contiguous gene deletion in distal chromosome 11q, generally varying in size from 7 to 20 Mb. Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder in which neurons are abnormally located in nodules along the edges of the lateral ventricles. PVNH can also be seen with other congenital anomalies, including a recurrent association with distal limb defects. Transverse limb defects have previously been reported in two patients with JS. We report on a patient with a 3.162 Mb interstitial deletion at chromosome region 11q24 overlapping the region commonly affected in JS. The patient had PVNH and a transverse limb reduction defect, with minimal typical findings of JS. This is the first report of PVNH associated with a microdeletion at chromosome 11q and may represent an expansion of the phenotypic spectrum associated with JS. This is the third report of transverse limb reduction defects in association with JS, supporting a widening of the skeletal phenotypic spectrum in JS to include more severe limb anomalies. ETS1 is proposed as a candidate gene for involvement in limb anomalies in JS.
File Format	HTM / HTML
ISSN	15524825
Issue Number	2
Volume Number	164A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-02-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Jacobsen Distal 11q Deletion Syndrome Genetics Limb Deformities, Congenital Periventricular Nodular Heterotopia Aged Brain Pathology Comparative Genomic Hybridization Facies Female Humans Diagnosis Magnetic Resonance Imaging Phenotype 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