Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter).

abstract：:The acrocephalosyndactylies (ACS) are a group of inherited disorders characterized by premature fusion of cranial sutures in association with abnormalities of the hands and feet. Based on their clinical features, different types of ACS have been described. We here report on a family with 9 individuals affected with AC...

journal_title：Clinical genetics

authors： Niemann-Seyde SC,Eber SW,Zoll B

更新日期：1991-10-01 00:00:00

abstract：UNLABELLED:After a 4-year multidisciplinary study of albinism our findings will be presented here. Over a hundred albinos were examined, together with their heterozygote family members. Given this substantial patient and subject sample we were provided with the opportunity to: evaluate the results of standard diagnosti...

journal_title：Clinical genetics

authors： van Dorp DB

更新日期：1987-04-01 00:00:00

abstract：:Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. The last patient had Marinesco-Sjøgren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from ...

journal_title：Clinical genetics

authors： Skre H,Berg K

更新日期：1977-01-01 00:00:00

abstract：:Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75 genes have been identified in both the mitochondrial and nuclear genome, implicating a high degree of genetic heterogeneity in LS. To profile these genetic signatur...

journal_title：Clinical genetics

authors： Lee JS,Yoo T,Lee M,Lee Y,Jeon E,Kim SY,Lim BC,Kim KJ,Choi M,Chae JH

更新日期：2020-04-01 00:00:00

abstract：:Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong ...

journal_title：Clinical genetics

authors： Vogel F

更新日期：1984-05-01 00:00:00

abstract：:Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The p...

journal_title：Clinical genetics

authors： Sabater-Molina M,Pérez-Sánchez I,Hernández Del Rincón JP,Gimeno JR

更新日期：2018-01-01 00:00:00

abstract：:In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet-Biedl syndrome (20 cases in 13 families) or Laurence-Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed...

journal_title：Clinical genetics

authors： Farag TI,Teebi AS

更新日期：1988-02-01 00:00:00

abstract：:We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy...

journal_title：Clinical genetics

authors： Smith A,Robson L,Buchholz B

更新日期：1998-03-01 00:00:00

abstract：:From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five "backcross families" studied for chromosome 15 polymorphisms we found only negative lod scores, and at theta = 0.10 a negative score of -3.42; i....

journal_title：Clinical genetics

authors： Bisgaard ML,Eiberg H,Møller N,Niebuhr E,Mohr J

更新日期：1987-08-01 00:00:00

abstract：:In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...

journal_title：Clinical genetics

authors： Yoon HJ,Kim H,Kim HL,Lee SG,Zheng SH,Shin JH,Lim CS,Kim S,Lee JS,Lee DS,Kim YS

更新日期：2002-08-01 00:00:00

abstract：:A seven-generation pedigree of apparent X-linked, nonspecific mental retardation is reported. There are 19 known affected males who appear to have received the gene through normal mothers. Retardation, lack of fine motor coordination, hyperactivity and a speech defect are the characteristics of affected individuals st...

journal_title：Clinical genetics

authors： Yarbrough KM,Howard-Peebles PN

更新日期：1976-02-01 00:00:00

abstract：:Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin-like domain; TM, transmembrane domain; TK, tyrosine kinase domain). ...

journal_title：Clinical genetics

authors： Amin S,Forrester N,Norman A,Lux A,Vijayakumar K

更新日期：2017-11-01 00:00:00

abstract：:This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly-like vertebral defects, finger a...

journal_title：Clinical genetics

authors： Uehara S,Akai Y,Takeyama Y,Okamura K,Takabayashi T,Yajima A,Natsui M,Nakai H

更新日期：1993-01-01 00:00:00

abstract：:Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical cha...

journal_title：Clinical genetics

authors： Yoo EH,Woo H,Ki CS,Lee HJ,Kim DK,Kang IS,Park P,Sung K,Lee CS,Chung TY,Moon JR,Han H,Lee ST,Kim JW

更新日期：2010-02-01 00:00:00

abstract：:Mutations in the insulin receptor gene have been reported in cases of type A insulin resistance. We report herein two cases of type A insulin resistance, which involve some novel mutations. Case 1 is a heterozygote of the C253Y missense mutation and case 2 is a heterozygote of the Y864X nonsense mutation. In the C253Y...

journal_title：Clinical genetics

authors： Osawa H,Nishimiya T,Ochi M,Niiya T,Onuma H,Kitamuro F,Kaino Y,Kida K,Makino H

更新日期：2001-03-01 00:00:00

abstract：:Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5-fold increase in Pep A activity over that of the control fibroblasts. ...

journal_title：Clinical genetics

authors： Namba M,Nakatsuka S,Etoh H,Kataoka N,Kimoto T

更新日期：1988-09-01 00:00:00

abstract：:An African American male of West Indies descent was diagnosed to have elevated transferrin saturation, hyperferritinemia, severe iron deposition in hepatocytes, and hepatic cirrhosis at age 4. He was treated with serial phlebotomy to maintain a normal serum ferritin concentration thereafter. We evaluated him at age 23...

journal_title：Clinical genetics

authors： Murugan RC,Lee PL,Kalavar MR,Barton JC

更新日期：2008-07-01 00:00:00

abstract：:Ezetimibe reduces plasma low-density lipoprotein (LDL) cholesterol by blocking sterol absorption in enterocytes. The NPC1L1 gene product was recently identified as the molecular target for ezetimibe, although functional details are incomplete. We used the non-response phenotype of plasma LDL cholesterol to ezetimibe t...

journal_title：Clinical genetics

authors： Wang J,Williams CM,Hegele RA

更新日期：2005-02-01 00:00:00

abstract：:Kidney and urinary tract malformations are among the most frequent developmental defects identified in newborns. Ranging from asymptomatic to neonatal lethal, these malformations represent an important clinical challenge. Recent progress in understanding the developmental origin of urinary tract defects in the mouse a...

journal_title：Clinical genetics

authors： Uetani N,Bouchard M

更新日期：2009-04-01 00:00:00

abstract：:Branched chain alpha-ketoacid dehydrogenase (BCKAD) deficiency, or maple syrup urine disease (MSUD), can be categorized as classical, intermediate, intermittent or thiamine responsive, based on generally concordant in vitro BCKAD activity and severity of phenotype. We present clinical and enzymatic data on a boy with ...

journal_title：Clinical genetics

authors： Gonzalez-Rios MC,Chuang DT,Cox RP,Schmidt K,Knopf K,Packman S

更新日期：1985-02-01 00:00:00

abstract：:Three children with deletions of the terminal portion of the long arm of chromosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac ano...

journal_title：Clinical genetics

authors： Conrad B,Dewald G,Christensen E,Lopez M,Higgins J,Pierpont ME

更新日期：1995-09-01 00:00:00

abstract：:This review assessed parents' attitudes toward childhood genetic testing for health conditions, with a focus on perceived advantages and disadvantages. We also evaluated the factors that influence parents' attitudes toward childhood genetic testing. We searched Medline, Medline In-Process, EMBASE, PsycINFO, Social Wor...

journal_title：Clinical genetics

authors： Lim Q,McGill BC,Quinn VF,Tucker KM,Mizrahi D,Patenaude AF,Warby M,Cohn RJ,Wakefield CE

更新日期：2017-12-01 00:00:00

abstract：:Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...

journal_title：Clinical genetics

authors： Felix JS,Doherty RA

更新日期：1979-03-01 00:00:00

abstract：:Tricho-dento-osseous (TDO) syndrome is an autosomal dominant trait characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. Genetic studies have identified a 4-bp deletion in the DLX3 gene that is associated with TDO; ...

journal_title：Clinical genetics

authors： Nguyen T,Phillips C,Frazier-Bower S,Wright T

更新日期：2013-04-01 00:00:00

abstract：:We report a case of trisomy 13 with cystic hygroma and generalized hydrops fetalis diagnosed prenatally by routine ultrasound prior to genetic amniocentesis in a 34-year-old woman. Although fetal cystic hygroma is usually associated with a 45,X karyotype, this and other previous reports suggest that it may be seen in ...

journal_title：Clinical genetics

authors： Greenberg F,Carpenter RJ,Ledbetter DH

更新日期：1983-11-01 00:00:00

abstract：:The syndromic association of striae in the long bones and pelvis, together with sclerosis of the base of the skull, has been investigated in four families. Impairment of hearing and alteration in the shape of the head are the most important clinical manifestations. Spinal abnormalities are an inconsistent feature. The...

journal_title：Clinical genetics

authors： Horan FT,Beighton PH

更新日期：1978-02-01 00:00:00

abstract：:We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosp...

journal_title：Clinical genetics

authors： Gehring B,Mornet E,Plath H,Hansmann M,Bartmann P,Brenner RE

更新日期：1999-10-01 00:00:00

abstract：:Single nucleotide polymorphisms (SNPs) are genetic variations that contribute to human phenotypes associated with various diseases. SNPs are involved in the regulation of a broad range of physiological and pathological processes, such as cellular senescence, apoptosis, inflammation, and immune response, by upregulatin...

journal_title：Clinical genetics

authors： Liu X,Han Z,Yang C

更新日期：2017-09-01 00:00:00

abstract：:The cause of hearing impairment has not been elucidated in a large proportion of patients. We screened by 1-Mb array-based comparative genomic hybridization (aCGH) 29 individuals with syndromic hearing impairment whose clinical features were not typical of known disorders. Rare chromosomal copy number changes were det...

journal_title：Clinical genetics

authors： Catelani AL,Krepischi AC,Kim CA,Kok F,Otto PA,Auricchio MT,Mazzeu JF,Uehara DT,Costa SS,Knijnenburg J,Tabith A Jr,Vianna-Morgante AM,Mingroni-Netto RC,Rosenberg C

更新日期：2009-11-01 00:00:00

abstract：:Between 1994 and 1998, the 23 UK genetics departments, which form the UK Huntington's Disease Consortium, have undertaken 161 direct mutation adult predictive tests on individuals whose at-risk parent was alive or had died without showing signs of Huntington's disease (HD) (5.7% of total UK tests). This study describe...

journal_title：Clinical genetics

authors： Benjamin CM,Lashwood A

更新日期：2000-07-01 00:00:00