NDLI: Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.

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: 2013 Volume: 161A

Year: 2012 Volume: 158A

Year: 2011 Volume: 155A

Year: 2010 Volume: 152A

Year: 2010 Volume: 152A Issue: 12

Year: 2010 Volume: 152A Issue: 11

Year: 2010 Volume: 152A Issue: 10

Year: 2010 Volume: 152A Issue: 9

Year: 2010 Volume: 152A Issue: 8

Year: 2010 Volume: 152A Issue: 7

Year: 2010 Volume: 152A Issue: 6

Year: 2010 Volume: 152A Issue: 5

Year: 2010 Volume: 152A Issue: 4

SACGHS mulls recommendations for genetics training.

New test could make carrier screening more accessible.

Tsukahara syndrome established as specific diagnosis.

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other.

Commentary: The second step in syndrome delineation: who belongs and who does not? Thoughts generated by the paper on Floating-Harbor syndrome by White and colleagues.

The phenotype of Floating-Harbor syndrome in 10 patients.

PAX2 mutations in fetal renal hypodysplasia.

Development of a culturally tailored genetic counseling booklet about hereditary breast and ovarian cancer for Black women.

Identification of susceptibility loci for scoliosis in FIS families with triple curves.

Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR-140.

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.

A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia – evaluation of DSEL as a candidate gene for the diaphragmatic defect

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

Fetal intracranial calcification: pseudo-TORCH phenotype and discussion of related phenotypes.

Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

New subtype of familial intracranial calcification in a mother and two children.

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.

Microdeletion of the Down syndrome critical region at 21q22.

Periventricular nodular heterotopia and distal limb deficiency: a recurrent association.

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.

Lipedema: an inherited condition.

Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1).

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.

Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

A tale of two deletions: a report of two novel 20p13 --> pter deletions.

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

Further delineation of the Kapur-Toriello syndrome.

Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.

Interstitial microdeletion of 4p16.3: contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.

Transverse limb defect in a patient with Jacobsen syndrome: concurrence of malformation and disruption.

Rubinstein-Taybi syndrome in first cousins with different de novo mutations.

A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin.

A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndrome.

18q22.3 --> 18q23 deletion syndrome and cleft palate.

Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings.

3p Deletion and (skewed) literature review.

Year: 2010 Volume: 152A Issue: 3

Year: 2010 Volume: 152A Issue: 2

Year: 2010 Volume: 152A Issue: 1

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

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Takatsuki, Shinichi Nakamura, Rina Haga, Youichi Mitsui, Kazumasa Hashimoto, Takuji Shimojima, Keiko Saji, Tsutomu Yamamoto, Toshiyuki
Description	Country affiliation: Japan Author Affiliation: Takatsuki S ( The First Department of Pediatrics, Toho University Omori Medical Center, Tokyo, Japan.)
Abstract	Owing to the large size of chromosome 2, partial monosomy of the long arm of this chromosome gives rise to many specific phenotypes. We report on a 2-month-old girl with an interstitial deletion of 2q24.2q24.3, which was confirmed by microarray-based comparative genomic hybridization analysis. The patient showed delayed growth and mental retardation, early myoclonic seizures, and characteristic dysmorphic features including thick arched eyebrows, upslanting palpebral fissures, long eyelashes, depressed nasal bridge, short nose, long philtrum, small mouth, micrognathia, and low set ears. Her early myoclonic seizures were likely due to haploinsufficiency of SCN1A and SCN2A, which are included in the deletion region. When she experienced acute bronchopneumonia, she showed severe pulmonary emphysema. The deletion region of 2q24.2 includes the integrin beta6 gene (ITGB6), which may prevent acute lung injury and pulmonary emphysema. Many previously reported patients with deletions of 2q24.2 showed poor outcomes because of respiratory failure. These observations suggest the possibility of a strong relationship between haploinsufficiency of ITGB6 and pulmonary dysfunction.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 2 Genetics Integrin Beta Chains Pulmonary Emphysema Adult Child Comparative Genomic Hybridization Facies Female Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Male Microsatellite Repeats Pregnancy Radiography, Thoracic Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
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