Osteopathia striata with cranial sclerosis. An autosomal dominant entity.

abstract：:In situ hybridization was used to characterize an undetected chromosome translocation in a child whose metaphase chromosome analysis in peripheral blood and in skin culture revealed apparent monosomy 21. The cytogenetic study revealed 45 chromosomes, and no other structural anomalies were detected with G banding. In s...

journal_title：Clinical genetics

authors： López-Pajares I,Martin-Ancel A,Cabello P,Delicado A,Garcia-Alix A,San Roman C

更新日期：1993-02-01 00:00:00

abstract：:Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of age, and sometimes well into adolescence. Here, we report a patient in whom prenatal detection of increased nuchal f...

journal_title：Clinical genetics

authors： Ashkinadze E,Rosen T,Brooks SS,Katsanis N,Davis EE

更新日期：2013-06-01 00:00:00

abstract：:It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual meas...

journal_title：Clinical genetics

authors： Howard-Peebles PN,Stoddard GR

更新日期：1980-02-01 00:00:00

abstract：:Synostoses of the carpals and metacarpals with oligodactyly were noted in a man whose brother was similarly affected. Since the proband's two children are normal, autosomal recessive transmission is probable. Although abnormalities of the feet, and particularly radioulnar synostosis, are lacking, this malformation is ...

journal_title：Clinical genetics

authors： Pfeiffer RA,Meisel-Stosiek M

更新日期：1982-01-01 00:00:00

abstract：:Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven previously reported IRF...

journal_title：Clinical genetics

authors： Malik S,Kakar N,Hasnain S,Ahmad J,Wilcox ER,Naz S

更新日期：2010-09-01 00:00:00

abstract：:A 27-year-old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence ...

journal_title：Clinical genetics

authors： Moss C,Burn J

更新日期：1988-08-01 00:00:00

abstract：:In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...

journal_title：Clinical genetics

authors： Puck M,Tennes K,Frankenburg W,Bryant K,Robinson A

更新日期：1975-01-01 00:00:00

abstract：:Growth retardation is a relatively consistent feature of Noonan syndrome but a standardized growth curve for height has never been calculated. Analysis of retrospective growth data on 112 patients with Noonan syndrome has permitted the establishment of preliminary reference growth standards for height for males and fe...

journal_title：Clinical genetics

authors： Witt DR,Keena BA,Hall JG,Allanson JE

更新日期：1986-09-01 00:00:00

abstract：:Two siblings born to consanguineous Bedouin parents and grandparents are reported with the phenotypic features of Ehlers-Danlos Syndrome (EDS), type VI. In addition, the affected individuals have a polyneuropathy as confirmed by nerve conduction velocity, electromyographic and muscle biopsy studies. We propose that th...

journal_title：Clinical genetics

authors： Farag TI,Schimke RN

更新日期：1989-02-01 00:00:00

abstract：:Acetylation is one of the major routes in metabolism and detoxification of a large number of drugs, chemicals and carcinogens. Slow acetylators are said to be more susceptible to developing bladder cancer and because of investigations about tumor risk based on phenotyping procedures, it was our aim to study the distri...

journal_title：Clinical genetics

authors： Schnakenberg E,Ehlers C,Feyerabend W,Werdin R,Hübotter R,Dreikorn K,Schloot W

更新日期：1998-05-01 00:00:00

abstract：:Forty-two children out of 20 sibships with autosomal recessive polycystic kidney disease were observed pro- and retrospectively over a mean period of 3.7 years in a long-term study on cystic kidney diseases in children. The intra- and interfamilial variability in terms of age at diagnosis, administration of antihypert...

journal_title：Clinical genetics

authors： Deget F,Rudnik-Schöneborn S,Zerres K

更新日期：1995-05-01 00:00:00

abstract：:Genetic studies as well as in situ hybridisation data have strongly demonstrated that the genes coding for apoprotein(a) and plasminogen are linked and localised to chromosome 6 at band 6q26-27. We describe in this report the presence of a recombination event in a region of approximately 50 kb of DNA separating the tw...

journal_title：Clinical genetics

authors： Magnaghi P,Agazzi A,Semino O,Ferrari M,Barbui T,D'Angelo A,Taramelli R

更新日期：1995-06-01 00:00:00

abstract：:Mental retardation associated with short stature, craniofacial dysmorphism, macrodontia and minor skeletal anomalies is reported in two sisters and their mother. The similarity with and the relationship to the KBG syndrome is discussed and the importance of clinical syndrome identification in familial mental retardati...

journal_title：Clinical genetics

authors： Fryns JP,Haspeslagh M

更新日期：1984-07-01 00:00:00

abstract：:To assess some of the emotional aspects of why parents seek genetic counseling and to measure the effect of genetic counseling in parents of children with Down's syndrome, pre- and post-counseling measures of anxiety, hostility, depression, and self-concept were obtained from 43 parents. Pre-counseling responses were ...

journal_title：Clinical genetics

authors： Antley RM,Hartlage LC

更新日期：1976-03-01 00:00:00

abstract：:The dentin sialophosphoprotein (DSPP) gene encodes the most abundant non-collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the DSPP gene have been solely related to non-syndromic form of hereditary dentin ...

journal_title：Clinical genetics

authors： Lee KE,Kang HY,Lee SK,Yoo SH,Lee JC,Hwang YH,Nam KH,Kim JS,Park JC,Kim JW

更新日期：2011-04-01 00:00:00

abstract：:Supernumerary marker chromosomes (SMC) can be associated with both normal and abnormal phenotypes. In addition, SMC are found at higher frequency in males with infertility. We identified a SMC, characterized as a del(15)(q11.2) chromosome, in a phenotypically normal male. Using fluorescence in situ hybridization (FISH...

journal_title：Clinical genetics

authors： Cotter PD,Ko E,Larabell SK,Rademaker AW,Martin RH

更新日期：2000-12-01 00:00:00

abstract：:Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show...

journal_title：Clinical genetics

authors： Buckle VJ,Edwards JH,Evans EP,Jonasson JA,Lyon MF,Peters J,Searle AG,Wedd NS

更新日期：1984-07-01 00:00:00

abstract：:The aim of the study was to determine any association of physical activity and Taq 1B polymorphism in the cholesteryl ester transfer protein gene on high-density lipoprotein (HDL) cholesterol. Five hundred and four subjects, 390 males and 114 females consisting of an equal number of age- and sex-matched healthy contro...

journal_title：Clinical genetics

authors： Mukherjee M,Shetty KR

更新日期：2004-05-01 00:00:00

abstract：:A large 15p + chromosome with a whole heterochromatic short arm has been studied by means of different banding techniques in six of nine individuals of a family; a possible Y/15 translocation has been excluded. Furthermore a heteromorphic pair 9 has been observed in seven family members, representing a "possible" smal...

journal_title：Clinical genetics

authors： Werner W,Herrmann FH

更新日期：1984-09-01 00:00:00

abstract：:We have conducted a study to assess the opinions of parents of individuals with mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for this condition, as testing is now technically possible. A questionnaire including a number of hypothetical clinical scenarios about NBS for MPS was distr...

journal_title：Clinical genetics

authors： Hayes IM,Collins V,Sahhar M,Wraith JE,Delatycki MB

更新日期：2007-05-01 00:00:00

abstract：:A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cous...

journal_title：Clinical genetics

authors： Kalam MA,Hafeez W

更新日期：1992-09-01 00:00:00

abstract：:In a Danish family highly susceptible to ischemic heart disease, hyperlipidemia did not simply cosegregate with a previously undescribed 10 bp deletion in the LDL receptor gene causing heterozygous familial hypercholesterolemia (FH). This mutation, designated as FH DK-4, deletes 10 nucleotides from exon 4 coding for t...

journal_title：Clinical genetics

authors： Jensen HK,Hansen PS,Jensen LG,Kristensen MJ,Klausen IC,Kjeldsen M,Lemming L,Bolund L,Gregersen N,Faergeman O

更新日期：1995-07-01 00:00:00

abstract：:A boy with Prader-Willi syndrome was found to have an inversion of chromosome 15,[46,XY,inv(15)(p13q13)]. His unaffected father has an apparently identical inversion of chromosome 15 but in addition has a number 14 chromosome with double satellites. This report supports previous indications of a relationship between a...

journal_title：Clinical genetics

authors： Winsor EJ,Welch JP

更新日期：1983-12-01 00:00:00

abstract：:Below-the-knee right leg hypoplasia and ipsilateral toe brachysyndactyly were observed in a 4-year-old female with an otherwise normal phenotype. Electromyographic and nerve conduction studies were normal. The Doppler evaluation was consistent with a 50% reduction in the blood supply from the femoral artery, suggestin...

journal_title：Clinical genetics

authors： Silengo M,Lerone M,Seri M,Boffi P

更新日期：1999-01-01 00:00:00

abstract：:During an investigation of cousin marriages in Iceland, five brothers and sisters were found to be homozygous for the "silent" allele of plasma cholinesterase. Clinical information on two family members is presented and discussed, and the possibility of the presence of a "nearly silent" plasma esterase allele, in one ...

journal_title：Clinical genetics

authors： Arnason A,Jensson O,Gudmundsson S

更新日期：1975-05-01 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：:Sixty-six percent of the at-risk persons and 74% of the partners in a large survey in Belgium have the intention of making use of predictive testing for Huntington's disease. One third of them, however, have expressed the intention of postponing the final decision for various reasons. The intention to be tested is not...

journal_title：Clinical genetics

authors： Evers-Kiebooms G,Swerts A,Cassiman JJ,Van den Berghe H

更新日期：1989-01-01 00:00:00

abstract：:Next-generation sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing and increasing the throughput. Now, the focus is on using NGS technology for diagnostics and therapeutics. In this review, we discuss the possible clinical applications of NGS and the potential of some of the current...

journal_title：Clinical genetics

authors： Desai AN,Jere A

更新日期：2012-06-01 00:00:00

abstract：:In the McCune-Albright syndrome, fibrous dysplasia of bones and various forms of endocrine dysfunction are associated with multiple pigmented skin lesions. Examination of a 4-year-old female patient and comparison with photographs published in the literature revealed that the cutaneous pigmentation is arranged in a sy...

journal_title：Clinical genetics

authors： Happle R

更新日期：1986-04-01 00:00:00

abstract：:The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organ...

journal_title：Clinical genetics

authors： Karolak JA,Szafranski P,Kilner D,Patel C,Scurry B,Kinning E,Chandler K,Jhangiani SN,Coban Akdemir ZH,Lupski JR,Popek E,Stankiewicz P

更新日期：2019-10-01 00:00:00