摘要:

The case described in this paper represents on the basis of cytogenetic evidence, the first reported example of a de novo tandem dup(5p)(p14→pter). Clinical changes were minimal, unlike previously described cases in which more complex structural chromosomal changes were involved and a phenotype was provisionally attributed to dup(5p) (p14 → pter). The duplicated segment of minimal effect identified in this case involved more than five eighths of 5p. It is proposed that there is a localised critical segment elsewhere on the short arm of chromosome 5 (p11–p13), which when duplicated is of greater significance in terms of clinical ef

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02771.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Arylsulfatase A (ASA) deficiency is the cause of early and late onset metachromatic leukodystrophy (MLD). Low ASA levels are detected in some healthy individuals who are pseudodefi‐cient (PD). PD individuals can be distinguished, because PD fibroblasts hydrolyze14C‐sulfatide at similar rates to normal fibroblasts. This has also been demonstrated in amniocytes and chorionic villi (CV). The genetic basis for PD is not clearly understood and is most likely heterogeneous with respect to allelic mutations of the ASA gene. It is hypothesized that the PD phenotype can either be due to PD/PD or PD/MLD genotypes, only the latter representing a potential risk to offspring. We report an unusual family where two siblings, both carriers of the classic late infantile MLD allele, are married to unrelated PD individuals. One couple has two PD offspring; their “at risk” status, due to the lack of an affected offspring is in question. The other couple terminated a fetus determined to be affected with a “MLD variant”, most likely a compound heterozygote. Cautions prenatal counseling of PD families is essential. The population frequency of the PD phenotype

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02772.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

We report two patients with Robinow or fetal face syndrome. We present a thirteen year follow‐up on three previously published cases and a review of 32 cases in the literature. The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned broad nose with anteverted nares, long philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype. Development delay and mental retardation was noted in 18% of the reported cases. Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported in 8 individuals from 3 families and autosomal recessive inheritance in 8 siblings from 4 families although no clinical differences were identified among those individuals with different inheritance patterns. Male to male transmission was reported in one family. Parental age does not appear to be a factor in the cause of this syndrom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02773.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

By a systemic search of osteopetrosis in the county of Funen, Denmark, the prevalence was 5.5/100,000 inhabitants.The study disclosed 33 patients of whom 32 had the mild, autosomal dominant form of osteopetrosis. Two obligate carriers, who had the genotype but were not phenotypically affected. were disclosed. There was a great variation in the clinical manifestations; 39% were asymptomatic. The age of first appearance of symptoms also varied widely (8–76 years), with a tendency to increasing symptoms with aging. The frequency of fractures was low.Plasma inorganic phosphate was low in 7% of the patients, and plasma acid phosphatase was increased in 39

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02774.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

X‐linked agammaglobulinemia (XLA) is a severe antibody deficiency disease reflecting an arrest of B lymphocyte differentiation at the level of precursor B cells. The disease is inherited in an X‐linked recessive mode. In a single eight‐generation pedigree the XLA gene was mapped to the Xq21.3‐Xq22 area of the X chromosome. The data establish close linkage of the XLA locus to the DXS17 restriction fragment length polymorphic (RFLP) marker locus (the lodscore exceeding 6 at = 0). A series of RFLP markers around the DXS17 locus provided an RFLP haplotype of use in genetic counselling within this pedigree. In one other pedigree a phenotypically identical disease was inherited but was accompanied by a high frequency of recombination with the DXS17 locus, which made localisation of the gene at the DXS17 locus highly unlikely (lod score<–3). This genetic heterogeneity complicates genetic counselling within particular pedigrees, especially when the localization of the XLA gene involved in those pedigrees has not been es

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02775.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A familial inv(4)(p16q21) ascertained through a woman who had a thanatophoric dwarf daughter and two abortions is presented. She and 23 other relatives were carriers, but no recombinants were found. The proportion of abortions and neonatal deaths in carriers' offspring was similar to that in non‐carriers. A random segregation of the inverted chromosome was observed. The analysis of the present and previous familial chromosome 4 pericentric inversions indicates that: a) the breakpoint in q, with a limit between q21 and q25 determines the occurrence of inherited unbalances, and b) most recombinant chromosomes have duplication of the larger distal segmen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02776.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A syndrome with severe generalized congenital ichthyosis, alopecia, eclabion, ectropion and mental retardation without neurological symptoms or macular changes in the eyes was seen in two sibs and in two aunts and uncles in an inbred North‐Swedish family. The clinical picture of the patients in the present family strongly deviated from that seen in the Sjögren‐Larsson syndrome found in the same area. This could be a new syndrome with autosomal recessive inherit

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02777.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A 37‐year‐old male had clinical and electrophysiological features of hereditary motor and sensory neuropathy (neuronal type) with onset in infancy, as well as histological picture of neurogenic myopathy. Two sons, aged 2 and 3 4/12 years, showed congenital contraction deformities of feet, delayed motor development, and electrophysiological features similar to those of the father. All three also presented laryngeal abnormalities, peculiar facies, short neck, narrow shoulders and protruding chest. The authors conclude that this aggregate of anomalies constitutes a “new” syndrome probably due to an autosomal domina

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02778.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

An 8‐year‐old boy with Hurler‐like traits including severe mental retardation excreted in his urine a pathognomonic amount of dermatan sulfate. Less than 10% residual activity of arylsulfatase B was found in his leucocytes and fibroblasts. Hurler fibroblasts corrected an abnormally high “SCVincorporation into acid mucopolysaccharides (MPS) in cultured fibroblasts, whereas Maroteaux‐Lamy fibroblasts did not. The patient thus has a rare combination of Maroteaux‐Lamy and severe mental

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02779.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb02780.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY