Fertility in patients with X chromosome deletions.

abstract：:A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sut...

journal_title：Clinical genetics

authors： Fried K,Rosenblatt M,Mundel G,Krikler R

更新日期：1975-03-01 00:00:00

abstract：:Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, includ...

journal_title：Clinical genetics

authors： Basit S,Khan S,Ahmad W

更新日期：2015-09-01 00:00:00

abstract：:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...

journal_title：Clinical genetics

authors： Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

更新日期：1993-06-01 00:00:00

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：:The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genet...

journal_title：Clinical genetics

authors： Shi X,Xie X,Jia Y,Li S

更新日期：2017-02-01 00:00:00

abstract：:This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped head...

journal_title：Clinical genetics

authors： Escobar V,Bixler D

更新日期：1977-09-01 00:00:00

abstract：:It is often thought that the incidence of genetic disease is rising, because improved medical care is increasing the survival, and therefore the cumulative number of affected people. This examination of the genetic implications of recent demographic change in Europe suggests that the incidence of genetic disease is in...

journal_title：Clinical genetics

authors： Modell B,Kuliev AM

更新日期：1989-11-01 00:00:00

abstract：:Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome...

journal_title：Clinical genetics

authors： Najjar SS,Der Kaloustian VM,Ardati KO

更新日期：1984-10-01 00:00:00

abstract：:We have recently characterized the transcriptome of the omental adipose tissue of non-diabetic, obese men with and without the metabolic syndrome (MS). The cysteine-rich protein 61 (CYR61) is one of the most differentially expressed genes between the groups and has been selected for a detailed molecular investigation....

journal_title：Clinical genetics

authors： Bouchard L,Tchernof A,Deshaies Y,Lebel S,Hould FS,Marceau P,Vohl MC

更新日期：2007-09-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The hear...

journal_title：Clinical genetics

authors： San Román I,Navarro M,Martínez F,Albert L,Polo L,Guardiola J,García-Molina E,Muñoz-Esparza C,López-Ayala JM,Sabater-Molina M,Gimeno JR

更新日期：2016-08-01 00:00:00

abstract：:Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety o...

journal_title：Clinical genetics

authors： Ramamurthy V,Cayouette M

更新日期：2009-08-01 00:00:00

abstract：:This report compares the pathogenetic influences of selective deletion and triplicaton of chromosome 13 derived from a familial 12;13 insertional translocation. In the proband a heritable chromosomal basis for his bilateral retinoblastomas is established [46,XY,del (13) (pter leads to q12.5: :q22.1 leads to qter)mat],...

journal_title：Clinical genetics

authors： Riccardi VM,Hittner HM,Francke U,Pippin S,Holmquist GP,Kretzer FL,Ferrell R

更新日期：1979-04-01 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：:More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relati...

journal_title：Clinical genetics

authors： Simon M,Alexandre JL,Bourel M,Le Marec B,Scordia C

更新日期：1977-05-01 00:00:00

abstract：:SOX18 mutations in humans are associated with both recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). We report two families with affected children carrying a SOX18 mutation: a living patient and his stillborn brother from Canada and a Belgian patient. The two living patients were diagnose...

journal_title：Clinical genetics

authors： Moalem S,Brouillard P,Kuypers D,Legius E,Harvey E,Taylor G,Francois M,Vikkula M,Chitayat D

更新日期：2015-04-01 00:00:00

abstract：:An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...

journal_title：Clinical genetics

authors： Sing CF,Zerba KE,Reilly SL

更新日期：1994-07-01 00:00:00

abstract：:Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal in...

journal_title：Clinical genetics

authors： Tezcan I,Demir E,Aşan E,Kale G,Müftüoğlu SF,Kotiloğlu E

更新日期：1997-02-01 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：:Mutations in the CDH23 gene are known to be responsible for both Usher syndrome type ID (USH1D) and non-syndromic hearing loss (DFNB12), and the molecular confirmation of the CDH23 gene has become important in the diagnosis of these conditions. The present study was performed to find whether the CDH23 mutations are al...

journal_title：Clinical genetics

authors： Wagatsuma M,Kitoh R,Suzuki H,Fukuoka H,Takumi Y,Usami S

更新日期：2007-10-01 00:00:00

abstract：:We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fun...

journal_title：Clinical genetics

authors： Prieto F,Badía L,Mulas F,Monfort A,Mora F

更新日期：1987-11-01 00:00:00

abstract：:The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndr...

journal_title：Clinical genetics

authors： Digilio MC,Pugnaloni F,De Luca A,Calcagni G,Baban A,Dentici ML,Versacci P,Dallapiccola B,Tartaglia M,Marino B

更新日期：2019-02-01 00:00:00

abstract：:Hereditary hydronephrosis is a rare condition but several families are described in the literature. The inheritance pattern is autosomal dominant (McKusick number 143400) but the exact aetiology of the hydronephrosis is not clear. However, linkage with the HLA region on chromosome six has been shown previously. We rep...

journal_title：Clinical genetics

authors： McHale D,Porteous ME,Wentzel J,Burn J

更新日期：1996-12-01 00:00:00

abstract：:In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22%, were consanguineous; several of the parents were related and the geograph...

journal_title：Clinical genetics

authors： Norio R,Koskiniemi M

更新日期：1979-05-01 00:00:00

abstract：:Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in...

journal_title：Clinical genetics

authors： Abbruzzese C,Kuhn U,Molina F,Rama P,De Luca M

更新日期：2004-02-01 00:00:00

abstract：:One hundred amniotic fluids were tested for the presence of ABH blood group substances. Gestation at amniocentesis ranged from 12 to 28 weeks, with a mean of 16.6 weeks. The secretor status of the fluid was correlated with the secretor status of the baby after birth as determined from a sample of saliva. Fluid and sal...

journal_title：Clinical genetics

authors： Gibson SL,Ferguson-Smith MA

更新日期：1980-08-01 00:00:00

abstract：:Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SC...

journal_title：Clinical genetics

authors： Liu A,Xu X,Yang X,Jiang Y,Yang Z,Liu X,Wu Y,Wu X,Wei L,Zhang Y

更新日期：2017-01-01 00:00:00

abstract：:Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in...

journal_title：Clinical genetics

authors： Jongkind JF,Verkerk A,Niermeijer MF

更新日期：1983-04-01 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：:Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations...

journal_title：Clinical genetics

authors： Zhang Z,Mu J,Zhao J,Zhou Z,Chen B,Wu L,Yan Z,Wang W,Zhao L,Dong J,Sun X,Kuang Y,Li B,Wang L,Sang Q

更新日期：2019-04-01 00:00:00

abstract：:In this paper we report a 22-year-old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia. This "segmental" type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in...

journal_title：Clinical genetics

authors： Fryns JP,van den Berghe H

更新日期：1986-10-01 00:00:00