abstract：:We report on a patient with mental and growth retardation, bilateral cleft lip and palate, hypertelorism, ptosis, hearing loss and mild epispadias, suggestive of Malpuech syndrome. High-resolution karyotype and microarray-CGH using an oligonucleotide array with 75Kb oligo's were normal, excluding Wolf-Hirschhorn syndr...

journal_title：European journal of medical genetics

authors： Priolo M,Ciccone R,Bova I,Campolo G,Laganà C,Zuffardi O

更新日期：2007-03-01 00:00:00

abstract：:We report on the observation of an interstitial deletion of the long arm of chromosome 1 diagnosed prenatally in a 28 weeks gestation fetus by standard karyotype. Amniocentesis was performed because of an increased Down syndrome maternal serum screening and ultrasonographic abnormalities. Fetus autopsy showed an intra...

journal_title：European journal of medical genetics

authors： Chaabouni M,Martinovic J,Sanlaville D,Attié-Bittach T,Caillat S,Turleau C,Vekemans M,Morichon N

更新日期：2006-11-01 00:00:00

abstract：:We report on a 3-year-old girl with psychomotor retardation, cardiopathy, strabismus, umbilical hernia, and facial dysmorphism in whom a de novo unbalanced submicroscopic translocation (10p;18q) was found by MLPA (Multiplex Ligation dependent Probe Amplification) and FISH analyses. Additional FISH studies with locus s...

journal_title：European journal of medical genetics

authors： Courtens W,Wuyts W,Scheers S,Van Luijk R,Reyniers E,Rooms L,Ceulemans B,Kooy F,Wauters J

更新日期：2006-09-01 00:00:00

abstract：:The psychomotor and somatic development from early childhood into adult life is described in a man with 46,XY,r(8)/46,XY mosaicism. The ring chromosome 8 appeared to be of normal length on G-banding, but terminal deletions on 8q and 8p were detected with FISH and CGH. By STR marker analysis the 8p deletion proved to b...

journal_title：European journal of medical genetics

authors： Gradek GA,Kvistad PH,Houge G

更新日期：2006-07-01 00:00:00

abstract：:Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at co...

journal_title：European journal of medical genetics

authors： Shrimpton AE,Hoo JJ

更新日期：2006-03-01 00:00:00

abstract：:We present three unrelated children with distinctive congenital facial skin lesions. All three children had two to three well-circumscribed, round or oval vesicular lesions, 1/2-1 cm in diameter on each cheek at birth. The lesions were located along an arc from the top of the ear to the corner of the mouth. Patient 1 ...

journal_title：European journal of medical genetics

authors： Prescott T,Devriendt K,Hamel B,Pasch MC,Peeters H,Vander Poorten V,Tallerås O

更新日期：2006-03-01 00:00:00

abstract：:The aim of this study was to investigate through direct sequencing the insulin receptor (INSR) gene in DNA samples from a migraine affected family previously showing linkage to chromosome 19p13 in an attempt to detect disease associated mutations. Migraine is a common debilitating disorder with a significant genetic c...

journal_title：European journal of medical genetics

authors： Curtain R,Tajouri L,Lea R,MacMillan J,Griffiths L

更新日期：2006-01-01 00:00:00

abstract：:The development of accurate and sensitive methodologies to detect small chromosomal imbalances (<3 Mb) is extremely important in clinical diagnostics and research in human genetics. The technique of array-comparative genomic hybridization (CGH) using BAC and PAC clones is very sensitive methodology and is rapidly beco...

journal_title：European journal of medical genetics

authors： Patsalis PC,Kousoulidou L,Sismani C,Männik K,Kurg A

更新日期：2005-07-01 00:00:00

abstract：:Interstitial deletions of chromosome 15q, not involving the PWS/AS region, are uncommon and poorly characterized. Few cases defined at the cytogenetic level have been reported with 15q21 deletions and characteristic facial dysmorphisms are present in all them. We report on the molecular characterization by array-CGH o...

journal_title：European journal of medical genetics

authors： Pramparo T,Mattina T,Gimelli S,Liehr T,Zuffardi O

更新日期：2005-07-01 00:00:00

abstract：:This report describes a patient who had bilateral facial nerve paralysis, external ophthalmoplegia, absence of pectoralis major muscle at right side, ipsilateral hand and foot, and contralateral hand anomalies. To our knowledge, this is the first patient with Poland syndrome reported in combination with Moebius syndro...

journal_title：European journal of medical genetics

authors： Cetin II,Aktaş D,Tunçbilek E

更新日期：2005-04-01 00:00:00

abstract：:Evidence has emerged that assisted reproduction technology (ART) may be associated with an increased risk of congenital malformations, low birth weight, and genetic imprinting disorders. The aim of the study was to determine, the prevalence of major malformations in newborns conceived by standard in vitro fertilizatio...

journal_title：European journal of medical genetics

authors： Merlob P,Sapir O,Sulkes J,Fisch B

更新日期：2005-01-01 00:00:00