Early childhood development of four boys with 47, XXY karyotype.

abstract：:Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 copies and the other of...

journal_title：Clinical genetics

authors： Yamagata H,Kinoshita M,Komori T,Kondo I,Miki T

更新日期：1998-10-01 00:00:00

abstract：:Four unrelated French cases of familial amyloid polyneuropathy are reported. Clinical onset ranged from the sixth to the ninth decade. Sensory signs were predominant initially in the lower limbs; motor changes, and in one case autonomic involvement, appeared later. Amyloid disease was clinically limited to the periphe...

journal_title：Clinical genetics

authors： Grateau G,Adams D,Malapert D,Viemont M,Delpech M,Said G

更新日期：1993-03-01 00:00:00

abstract：:A 15-year-old male was referred for management of scoliosis secondary to congenital vertebral anomalies. Cytogenetic analysis was performed because of multiple congenital malformations. The patient was found to have a mosaic 46,XY/48,XXY,+8 chromosome complement with the characteristic clinical and dermatoglyphic feat...

journal_title：Clinical genetics

authors： Casey PA,Clark CE,Cowell HR

更新日期：1981-07-01 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：:Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the ne...

journal_title：Clinical genetics

authors： Brozková D,Mazanec R,Haberlová J,Sakmaryová I,Seeman P

更新日期：2010-07-01 00:00:00

abstract：:The genetic mechanisms driving normal brain development remain largely unknown. We performed genomic and immunohistochemical characterization of a novel, fatal human phenotype including extreme microcephaly with cerebral growth arrest at 14-18 weeks gestation in three full sisters born to healthy, non-consanguineous p...

journal_title：Clinical genetics

authors： Ramos EI,Bien-Willner GA,Li J,Hughes AE,Giacalone J,Chasnoff S,Kulkarni S,Parmacek M,Cole FS,Druley TE

更新日期：2014-05-01 00:00:00

abstract：:Depression during pregnancy can have serious consequences for families. Indications of fetal aneuploidy can induce maternal stress, a risk factor for depression. Few studies have assessed symptoms of depression in pregnant women soon after they receive results indicating increased risk for fetal aneuploidy. We compare...

journal_title：Clinical genetics

authors： Hippman C,Oberlander TF,Honer WG,Misri S,Austin JC

更新日期：2009-01-01 00:00:00

abstract：:Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common inherited kidney disease that causes end-stage renal disease and kidney failure. Preimplantation genetic testing for monogenic (PGT-M) can effectively prevent the transmission of genetic diseases from parents to the offspring before pre...

journal_title：Clinical genetics

authors： Shi H,Niu W,Liu Y,Jin H,Song W,Shi S,Yao G,Xu J,Sun Y

更新日期：2021-02-01 00:00:00

abstract：:Exome sequencing is being offered for children with undiagnosed conditions to identify a primary (causative) variant. Parental preferences for learning secondary (incidental) variants are largely unexplored. Our objective was to characterize values and beliefs that shape parents' preferences for learning their childre...

journal_title：Clinical genetics

authors： Sapp JC,Dong D,Stark C,Ivey LE,Hooker G,Biesecker LG,Biesecker BB

更新日期：2014-02-01 00:00:00

abstract：:Long non-coding RNAs (lncRNAs), a class of long RNAs, are longer than 200 nucleotides in length but lack protein-coding capacity. LncRNAs, as critical genomic regulators, are involved in genomic imprinting regulation, histone modification and gene expression regulation as well as tumor initiation and progression. Howe...

journal_title：Clinical genetics

authors： Zhang HD,Jiang LH,Zhong SL,Li J,Sun DW,Hou JC,Wang DD,Zhou SY,Tang JH

更新日期：2021-01-01 00:00:00

abstract：:Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients...

journal_title：Clinical genetics

authors： Damkier A,Brandrup F,Starklint H

更新日期：1991-05-01 00:00:00

abstract：:We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. Howev...

journal_title：Clinical genetics

authors： Sawan ZA,Almehaidib A,Binamer Y,Monies D,Alsaleem KA,Aldekhail W,Alkuraya FS,Abanemai M

更新日期：2021-01-07 00:00:00

abstract：:Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a ...

journal_title：Clinical genetics

authors： Angius A,Uva P,Oppo M,Buers I,Persico I,Onano S,Cuccuru G,Van Allen MI,Hulait G,Aubertin G,Muntoni F,Fry AE,Annerén G,Stattin EL,Palomares-Bralo M,Santos-Simarro F,Cucca F,Crisponi G,Rutsch F,Crisponi L

更新日期：2019-05-01 00:00:00

abstract：:An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence ...

journal_title：Clinical genetics

authors： Wallis CE,Shun-Shin M,Beighton PH

更新日期：1988-07-01 00:00:00

abstract：:The hypothalamus plays a critical role in the regulation of food intake and body weight, and recent work has defined a core circuitry in the hypothalamus that appears to mediate many of the effects of the adipocyte-derived hormone leptin on feeding and glucose homeostasis. However, until recently, little was known abo...

journal_title：Clinical genetics

authors： Bouret SG,Simerly RB

更新日期：2006-10-01 00:00:00

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：:Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55...

journal_title：Clinical genetics

authors： Negri G,Milani D,Colapietro P,Forzano F,Della Monica M,Rusconi D,Consonni L,Caffi LG,Finelli P,Scarano G,Magnani C,Selicorni A,Spena S,Larizza L,Gervasini C

更新日期：2015-02-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. Three genes are implicated in causing ADPKD. One on chromosome 16, PKD1, accounts for 85-90% of al...

journal_title：Clinical genetics

authors： Deltas CC,Christodoulou K,Tjakouri C,Pierides A

更新日期：1996-07-01 00:00:00

abstract：:An abnormality of chromosome 16 in which there is extra genetic material present on the short arm (46,XY, 16p+) has been identified. This chromosomal aberration was associated with multiple congenital anomalies, including mid-facial hypoplasia, arthrogryposis, and mental retardation. On the basis of the cytogenetic ap...

journal_title：Clinical genetics

authors： Golden NL,Bilenker R,Johnson WE,Tischfield JA

更新日期：1981-01-01 00:00:00

abstract：:A family is reported in which Sanfilippo A syndrome affected three siblings: the proband and twin premature infants. The feasibility of intrauterine diagnosis of mucopolysaccharidoses (MPS) Type IIIA, was demonstrated by the excessive accumulation of 35SO4-mucopolysaccharides in fibroblasts cultured from amniotic flui...

journal_title：Clinical genetics

authors： Greenwood RS,Hillman RE,Alcala H,Sly WS

更新日期：1978-03-01 00:00:00

abstract：:In whole-exome sequencing (WES), target capture methods are used to enrich the sequences of the coding regions of genes from fragmented total genomic DNA, followed by massively parallel, 'next-generation' sequencing of the captured fragments. Since its introduction in 2009, WES has been successfully used in several di...

journal_title：Clinical genetics

authors： Robinson PN,Krawitz P,Mundlos S

更新日期：2011-08-01 00:00:00

abstract：:Mutations in the NPC1 or NPC2 gene are responsible for Niemann-Pick type C (NPC) disease (OMIM #257220), an autosomal recessive neurodegenerative lysosomal storage disorder caused by an incorrect regulation of intracellular lipid trafficking. A molecular analysis carried out in 30 unrelated patients identified 43 dist...

journal_title：Clinical genetics

authors： Macías-Vidal J,Rodríguez-Pascau L,Sánchez-Ollé G,Lluch M,Vilageliu L,Grinberg D,Coll MJ,Spanish NPC Working Group.

更新日期：2011-07-01 00:00:00

abstract：:The effects of apolipoprotein (apo) A-IV genotype on serum glucose, total cholesterol, low density lipoprotein (LDL) cholesterol, high density lipoprotein (HDL) cholesterol, triglyceride and glucose concentrations were ascertained in a population of 373 men and 361 women with a mean age of about 57 years. Subjects wer...

journal_title：Clinical genetics

authors： Larson IA,Ordovas JM,Sun Z,Barnard,Lohrmann J,Feussner G,Lamon-Fava S,Schaefer EJ

更新日期：2002-06-01 00:00:00

abstract：:Specific chromosome rearrangements associated with disease entities are invaluable resources for physical mapping. A deletion on the X chromosome of a male leads to the nullisomy for X-linked genes, resulting in the onset of genetic diseases and/or the absence of the DNA probe detectable sequences. This permits the lo...

journal_title：Clinical genetics

authors： Yang HM,Lund T,Niebuhr E,Nørby S,Schwartz M,Shen L

更新日期：1990-08-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried ...

journal_title：Clinical genetics

authors： Gal A,Wirth B,Kääriäinen H,Lucotte G,Landais P,Gillessen-Kaesbach G,Müller-Wiefel DE,Zerres K

更新日期：1989-01-01 00:00:00

abstract：:A dysmorphic child was found by cytogenetic analysis to have an extra small marker chromosome. The marker chromosome was shown to possess a chromosome 18 centromere by in situ hybridization, and probably represents an isochromosome 18p. Centromere specific probes should be of value in identifying extra small marker ch...

journal_title：Clinical genetics

authors： Blennow E,Nielsen KB

更新日期：1991-06-01 00:00:00

abstract：:We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daugh...

journal_title：Clinical genetics

authors： Zinn AR,Ouyang B,Ross JL,Varma S,Bourgeois M,Tonk V

更新日期：1997-10-01 00:00:00

abstract：:Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost eq...

journal_title：Clinical genetics

authors： Sare Z,Ruvalcaba RH,Kelley VC

更新日期：1978-09-01 00:00:00

abstract：:Pallister Killian syndrome (PKS) is the most frequent form of partial autosomal tetrasomy 12p in humans. Sufferers have a mosaic of isochromosome 12p [i(12p)]. We report the first pre-natal diagnosis on fetal blood cells after cordocentesis during the second trimester. The extra chromosome was first diagnosed by in si...

journal_title：Clinical genetics

authors： Chiesa J,Hoffet M,Rousseau O,Bourgeois JM,Sarda P,Mares P,Bureau JP

更新日期：1998-10-01 00:00:00

abstract：:A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 con...

journal_title：Clinical genetics

authors： Zhang Y,Zhang JQ,Liu ZH,Xiong CM,Ni XH,Hui RT,He JG,Pu JL

更新日期：2009-06-01 00:00:00