摘要:

A fetus with tetrasomy for the short arm of chromosome 12 due to ade novoaccessory isochromosome i(12p) is described. Involvement of the 12p in this chromosome aberration was suggested by banding analysis and substantiated by detection of a marked increase of LDH‐B in the fetal fibroblasts.The syndrome shown by this fetus includes many of the minor anomalies described for live‐born patients with partial trisomy 12p, and in addition malformations including brachymelia, anal atresia and double kidn

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03314.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The autosomal recessive multiple pterygium syndromes are a heterogeneous group of disorders in which multiple joint contractures are associated with cutaneous webbing. Recently, we evaluated a 33 week gestation male in whom multiple pterygia were one feature of a broader pattern of malformation. Clinical management was adversely affected by malignant hyperthermia. In this report we present the clinical, radiographic and pathologic data of this patient and those of an affected stillborn female sibling. We believe that these represent the features of a newly recognized disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03315.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The carrier status of women in five families with an isolated haemophilia male was assessed by pedigree analysis, coagulation factor assays and DNA markers. In three families, ten women could be given very low risks of being carriers based on DNA analysis. In two of the families the DNA markers identified the mutation as originating in either the maternal or maternal grandfather's germ celt. Combined DNA and coagulation data suggested that the affected male in a third family was ade nowmutation. DNA analysis of the affected male in another family identified a large deletion of the F8 gene which was present in his mother and three sisters, suggesting that the grandmother was a carrier. A combination of coagulation factor data and DNA marker assessment can determine the carrier status of the majority of females in families with isolated affected haemophilia A males.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03316.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03317.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Observations on the intellectual and educational functioning of neonatally identified 47, XXY boys and their sibs are presented. Equations for predicting the intellectual abilities of extra X boys on the basis of those of their sibs are provided. These may be useful to professionals engaged in counselling parents or possible parents of 47, XXY males.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03318.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In two patients that closely resembled the phenotype of the syndrome produced by aminopterin in early pregnancy, no evidence of maternal exposure could be elicited. These, plus two similar cases from the literature, suggest the existence of an “aminopterin‐like syndrome sine aminopterin” (ASSA) syndrome. Characteristic traits are: ossification defects of the cranium, temporal recession of hairline with upswept frontal hair pattern, ocular hypertelorism, prominent nose root, low set posteriorly rotated ears, limited elbow movement, variable digital defects, simian creases, short stature, and mild to moderate psychomotor retardation. Autoso‐mal recessive inheritance is a poss

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03319.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented and discussed, and the previously reported cases of familially transmitted G‐group ring chromosomes are reviewe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03320.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

An 8‐year‐old boy with the features of Langer‐Giedion syndrome except for short stature is described. Chromosome analysis using high resolution G‐banding techniques revealed an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8)(q24.13

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03321.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

An inverted tandem duplication of 1q11‐q22 was found in a male infant with severely retarded psychomotor development, growth retardation, and multiple congenital malformations. Tri‐somy for this segment of chromosome 1 has not been previously repor

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03322.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

In this paper we report detailed autopsy data of a malformed male newborn with Sp trisomy due to ade novoinverted 5p duplication, inv dup (5Xpl3.1→ pl5.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus caliosum, and Dandy‐Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03323.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY