摘要:

AbstractWe have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limbpterygia,heart defects,autosomal recessive inheritance,vertebral defects,ear anomalies andradial defects. This represents an new autosomal recessive disorder with phenotypic variability. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470602

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractSupernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described only for 12p, 18p, and 9p. Nineteen previous cases of tetrasomy 9p have been reported, and in 6 cases, tissue‐specific mosaicism was implied with the i(9p) cell line present exclusively or predominantly in blood. We report on an infant who had apparently normal chromosomes (46,XY) on CVS. He was referred for genetic evaluation because of mild developmental delay and minor anomalies. In 75% of blood cells he had an extra isodicentric 9p chromosome (pter→q12→pter). The interpretation of tetrasomy 9p was confirmed by elevated GALT activity. No tetrasomy 9p cells were seen in 100 skin fibroblasts. This case demonstrates the tissue specific mosaicism in tetrasomy 9p which rendered the anomaly undetectable by CVS. It also demonstrates the mild end of the clinical spectrum associated with tetrasomy 9p. © 1993 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470603

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractTwo families and 3 patients with dup(10p)/del(10q) syndrome segregating from a maternal pericentric inversion are described, including a stillborn female with Potter sequence and multicystic renal dysplasia. Comparison of 32 dup(10p) patients to 11 del(10)(q25) patients emphasized dolichocephaly, wide sutures, frontal bossing, micrognathia, and renal defects as distinguishing characteristics of the dup(10p) syndrome. The 3 new and 6 previously reported dup(10p)/del(10q) patients had several manifestations in common with the dup(10p) and del(10q) syndromes, but were more typical of dup(10p) syndromes, with respect to all 5 distinguishing characters. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470604

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractWe describe an apparently newly recognized postnatal‐onset obesity syndrome with short stature, mental deficiency, hypogonadism, micropenis, contractures of the fingers, and cleft lip‐palate. Comparison is made with other postnatal‐onset obesity syndromes, particularly Vasquez syndrome and Urban syndrome. The cause of our patient's syndrome is unknown at present. We encourage the reporting of other cases to help clarify whether our patient represents a separate entity. © 1993 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470605

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractAn apparently balanced translocation, t(2;7)(q21.1;q22.1) was detected in a female patient with bilateral split hand and right split foot. Split hand/split foot (SHSF) segregated as an autosomal dominant character with low penetrance in her family. The translocation was present in 6 of 13 additional relatives investigated, one of whom also had split hand on right. This observation provides further confirmation of the presence of a locus for SHSF on 7q and narrows the critical region to band 7q22.1. Defects caused by alterations of this chromosome region are variable and include manifestations of both syndromal and non‐syndromal SHSF. Review of SHSF cases associated with chromosome 7 abnormalities showed a preferential involvement of the lower limbs and of the right side, suggesting the action of locally restricted developmental resistance mechanisms. © 1993 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470606

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractAn autosomal recessive syndrome of progressive rod‐cone dystrophy, sensorineural deafness, and renal dysfunction was identified in 14 children in 9 Afrikaner families in South Africa. The renal involvement, which is of the Fanconi type, leads to rickets‐like skeletal changes and kidney failure. Each of the children was initially misdiagnosed as having retinitis pigmentosa or Usher syndrome, on a basis of minor retinal pigmentation. This condition, which appears to be a hitherto undocumented entity, warrants differentiation from these disorders. © 1993 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470607

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractHunter syndrome is an X‐linked recessive disorder. Determination of heterozygotes is of vital importance in genetic counselling. We describe the DNA linkage analysis in 6 Hunter syndrome families and compare it to previous results based on a serum assay for IDS activity. Our results confirm the reliability of the serum assay. The serum test correctly detected 11/12 of the 1st degree relatives tested by the serum assay (6/7 carriers and 5/5 non‐carriers). The only case with an apparent false negative result in the serum test was a daughter of a “probable heterozygote” whose serum test was also negative. We suggest that in this family the mother represented a case of germinal mosaicism and her daughter, based on the serum test, was not a carrier. If our interpretation is correct, then the apparent false negative results were correct.It is concluded that in families where the mutation is not known and DNA analysis is not possible due to the lack of informative RFLPs or due to the lack of DNA samples on key individuals, as well as in sporadic cases, the serum test should be applied as an alternative option for heterozygote detection. © 1993 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470608

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractSkeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study.Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal, aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed. © 1993 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470609

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractWe present prenatal diagnosis and follow‐up examination of an individual with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifested significant abnormalities with mental retardation and microcephaly present in 3 of the 4 cases; 15% (2/13) of familial cases had abnormalities and 40% (2/5) of de novo cases had abnormalities. © 1993 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470610

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractWe report on a boy with Schinzel‐Giedion syndrome (SGS) with a previously unreported manifestation, a malignant sacrococcygeal teratoma. This is the second case of SGS to have a malignancy, as one earlier case had a hepatoblastoma. We postulate that the occurrence of 2 uncommon embryonic tumors among these patients with a rare syndrome may mean that risk of malignancy may be a component of this syndrome. © 1993 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320470611

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY