摘要:

AbstractA DNA length polymorphism in the nontranscribed spacer region of the repeating unit that codes for human ribosomal RNA produces a characteristic pattern of restriction fragments in each individual. Quantitative densitometric analysis of ribosomal DNA fragment distribution in families demonstrates additive inheritance in those with chromosomally normal or aneuploid offspring. Differences between offspring and parental ribosomal DNA patterns could be explained by a heterogeneous distribution of length variants on the acrocentric chromosomes. New ribosomal DNA length variants of 9.0, 6.7, 5.5, and 5.2 kilobases were observed in normal individuals after BamHI restriction, and the former two were present in multiple copies. A panel of solid tumor specimens exhibited ribosomal DNA patterns that were generally characteristic of the patient rather than tumor type. However, novel ribosomal DNA length variants or changes in length variant proportions were noted in three of the four tumors for which adjacent normal tissue was available for comparison; these alterations occurred in a Burkitt lymphoma, a teratoma, and a Wilms tumor. A consistent karyotype of 50,XY in the Wilms tumor specimen supports previous evidence for increased repetitive DNA variation in aneuploid, neoplastic tissues.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280514

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

年代:1987

数据来源: WILEY

摘要:

AbstractA 25‐year‐old mentally retarded woman was evaluated because of her socially inappropriate behavior. She had a phenotype so closely resembling that of the Prader‐Willi syndrome that several experienced clinical geneticists immediately identified her as having that condition. Chromosome analysis showed a ring chromo‐some 9 but no apparent abnormality of chromo

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280515

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

年代:1987

数据来源: WILEY

摘要:

AbstractSince 1963, 11 cases have been reported in which both the acardiac twin and the “normal” co‐twin were studied cytogenetically. Aneuploidy or polyploidy was clearly identified in the acardiac twin in 7 cases and in the co‐twin in 1 case. We report on 2 additional twin pairs in which aneuploidy was associated with acephalus‐acardia. In both cases the “normal” co‐twin had a Klinefelter (47,XXY) karyotype. Chromosome analysis in the 2 acardiac twins documented a 47,XXY constitution in one and 94,XXXXYY anomaly in the other. One of the “normal” co‐twins also had the VATER association. Given these data we would recommend chromosome analysis of both members of a twin pair when one

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280516

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

年代:1987

数据来源: WILEY

摘要:

AbstractAn 18‐year‐old woman presented with primary amenorrhea. She was prepubertal and had a few minor anomalies. Nonreciprocal chromosome translocations involving the X, a 2, and an 8 included a break in the region of the Xq l3‐q26, considered critical for normal ovarian development. Breakpoints within this region are thought to interfere with normal gonadal development. Our patient had no evidence of normal ovarian tissue or evident manifestations of the Ullrich‐Turner s

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280517

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

年代:1987

数据来源: WILEY

摘要:

AbstractWe describe a normal man with the karyotype: 45,X,dic(Y;22)(Ypter→ Yq 11.23::22p l1.2→22qter). A brother and father of the propositus also had 45 chromosomes with the same dic(Y;22). Carriers of this chromosome are of normal phenotype, and the carrier of reproductive age had apparently normal fertility. A neo‐X1X1X2X2/X1X2Y sex‐determining mechanism can be considered to be operating in this

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280518

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

年代:1987

数据来源: WILEY

摘要:

AbstractFetal death is a common phenomenon; parental chromosome study may uncover the cause of the problem and contribute to the management of the couple involved. Discovery of a translocation provides a firm basis for genetic counseling, detection of carriers, and prenatal diagnosis. We have studied a young couple with a history of 4 consecutive spontaneous abortions before cytogenetic study demonstrated the father to carry a t (l:14). The translocation was found in 2 other adults, a liveborn child, and a fetus, in a total of 3 generations.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280519

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

年代:1987

数据来源: WILEY

摘要:

AbstractA deletion of the long arm of chromosome 9(pter→q32:) in a newborn infant at 38 weeks of gestation was associated with a syndrome of arrhinencephaly, rudimentary ears, hypoplastic lungs and ureters, redundant nuchal skin folds, and congenital heart defects. Other findings included a Sydney line, macrocephaly, talipes equinovarus, oligohydramnios, and amnion nodosum. Detailed pathologic observations and the chromosome abnormality are describe

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280520

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

年代:1987

数据来源: WILEY

摘要:

AbstractNine infants with thanatophoric dysplasia (TD) and cloverleaf skull (CS) are reported. Twenty‐two previously published CSTD cases are reviewed. These CSTD cases are compared to cases of TD without CS. U is concluded that there are two types of TD: type l, with curved femora and very flat vertebral bodies; and type 2, with straight femora and taller vertebral bodies. Consistent but subtle histopathological characteris‐tics differentiate the two types. Only a very few type l cases have CS, and the CS is mild. Almost all type 2 cases have severe

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280521

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

年代:1987

数据来源: WILEY

摘要:

Abstract“Geleophysic” dysplasia is a rare autosomal recessive disorder, probably of glycopro‐tein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions. Electron microscopy of a liver biopsy showed similar and additional changes to those published previ

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280522

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

年代:1987

数据来源: WILEY

摘要:

AbstractClinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types, which were designated as type l and type 2. Type l ATD was characterized by the presence of radiologically irregular metaphyseal ends and histopathologically irregular cartilage bone junction with patchy distribution of physeal zone of hypertrophy. Type 2 ATD showed radiologically smooth metaphyseal ends and histopathologically diffusely retarded and disorganized physes with smooth cartilage bone junctions. Examination of four patients with the “Verma‐Naumoff” short rib‐polydactyly syndrome showed many radiologic and pathologic features similar to those of type l ATD. Differential diagnosis of these three osteochondrodysplasias is discussed along with chondroectodermal (Ellis‐van Creveld), short rib‐polydactyly syndrome type 1 (Saldino‐Noonan), short rib‐polydactyly syndrome type 2 (Majewski), and the short rib‐polydactyly syndrome type 2 (Majewski), and the new short rib syndrome reported to be

ISSN:0148-7299    

DOI:10.1002/ajmg.1320280523

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

年代:1987

数据来源: WILEY