Results 131 to 140 of about 1,767 (167)

Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium

European Journal of Medical Genetics, 2006
We describe a newborn infant with del(1)(q) syndrome, presenting with rare congenital cardiomyopathy and left ventricular noncompaction myocardium (LVNC), as well as typical clinical features such as facial dysmorphism and psychomotor retardation. Although conventional chromosome banding at 850 bands per haploid set indicated a karyotype of 46,XX,add(1)
Hitoshi Horigome   +2 more
exaly   +3 more sources

A case of childhood acute myeloid leukemia AML (M5) with a neocentric chromosome neo(1)(qter→q23∼24::q23∼24→q43→neo→q43→qter) and tetrasomy of chromosomes 8 and 21

Cancer Genetics and Cytogenetics, 2009
Abstract Hyperdiploidy is rarely observed in childhood acute myeloid leukemia (AML). Described here is the case of a 2½-year-old girl with AML-M5 and 51 chromosomes characterized by double tetrasomy of chromosomes 8 and 21 and also a neocentric derivative chromosome neo(1)(qter→q23∼24::q23∼24→q43→neo→q43→qter).
Amanda Faria de Figueiredo   +2 more
exaly   +2 more sources

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

Clinical Genetics, 1985
Two unrelated children, one with a proximal interstitial deletion 1 (l(pter → q21: :q25 → qter)) and the other one with a distal interstitial deletion 1 (l(pter → q41: :q43 → qter)) are presented. The clinical features of the patient with a proximal deletion (q21‐q25) correspond with those of eight earlier reported cases with a deletion lq21/22/23 ...
F A Beemer
exaly   +3 more sources

Stratigraphic division based on minor elements in the sediment core Q43 from the outer shelf of the East China Sea: Approached through correspondence analysis and fuzzy cluster analysis

Journal of Ocean University of China, 2005
The multivariate statistical techniques, principal component analysis, Q-mode factor analysis, correspondence analysis and fuzzy C-means clustering were applied to analyzing the datasets of minor element concentrations in sediment samples of a core collected from the outer shelf of the East China Sea.
Xiaotong Lin, Weiran Li, Shujie Du
exaly   +2 more sources

Interstitial deletion of 1q42.13-q43 with Duane retraction syndrome

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2007
Duane retraction syndrome is a congenital eye movement disorder characterized by failure of the sixth cranial nerve or nucleus to develop properly, resulting in restriction of abduction, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction and/or restricted adduction. The gene loci of Duane syndrome have been mapped on
Zenichiro, Kato   +2 more
openaire   +2 more sources

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