摘要:

AbstractDuplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12–q33.2) and one with a smaller duplication (q21.12–q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11–q13 to q32–q33). © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490112

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe describe a child with manifestations of the oculo (facio)‐auriculo‐vertebral specturum and caudal dysgenesis. This is sixth axial mesodrmal dysplasia sequence case to be reported. The infant was ascertained through the Spanish Collaborative Study of Congenital Malformations (ECEMC). It was possible to calculate the prevalence figure for the association of both conditions in the same child, as well as its expected chance frequency. Comparison of the expected with the observed frequency supports the suggestion that the concurrence of oculo(facio)‐auriculo‐vertebral sequence and caudal dysgenesis could well constitute a single entity. © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490113

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe have studied a girl, her sister and her mother who had a supernumerary marker chromosome in mosaicism. The marker was studied by cytogenetic methods and nonisotopic in situ hybridization with the single D22S9 DNA probe which maps to 22q11. The supernumerary chromosome was derived from a chromosome 22 and it did not present the same morphology in all the cells. At least 5 distinct types of the marker chromosome were detected and some of them were probably derived from each other (dynamic mosaicism).The proposita had an MCA pattern consistent with mild cat eye syndrome, while her sister and her mother had some of the manifestations described in this syndrome. A specific corelation could be established between phenotype and karyotype. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490114

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

年代:1994

数据来源: WILEY

摘要:

AbstractFourteen families of children with infantile nephropathic cystinosis were evaluated using the Standford‐Binet Intelligence Scale, Fourth Edition [Thorndike et al., 1986: Stanford‐Binet Intelligence Scale, Fourth Ed.]. The IQs of 15 children with cystinosis, their 23 sibs and 24 parents were compared in order to evaluate a potential effect of cystinosis on intelligence. Children with cystinosis had a significantly lower lmean IQ then their sibs and their parents (P= .001). Thus, even though the mean IQ of the children with cystinosis (94.4 ± 10) was within the average range, there is evidence that these children have a mild global intellectual deficit relative to their expected IQ based upon the IQs of other relatives. In addition, to a subset of the subjects we administered a measure of scholastic ability, the Wide Range Achievement Test‐Revised [Jastak and Wilkinson, 1984: The Wide Range Achievement Test‐Revised], which consists of spelling, reading, and arithmetic substests. The 11 cystinosis subjects scored significantly lower (P= .01) than their 16 sibs and their 14 parents in the area of spelling, whereas they did not significantly differ in their performance in the areas of reading and arithmetic. © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490115

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe report on a child with chonal atresia and deletion 9p. A review of the literature documented one previous instance of choanal atresia in a patient with del(9p). Choanal atresia may be part of the spectrum of malformations in the deletion (9p) syndrome and its presence should prompt a search for this particular deletion as part of the differential diagnosis. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490116

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

年代:1994

数据来源: WILEY

摘要:

AbstractHere we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre‐and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxiallary hypoplasia, large mouth with downturned corners, short philtrum and everted lower lip, associated with remarkable ectomorphic habitus. © 1994 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490117

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe report on a newborn infant with clinical and radiological manifestations of some type of short rib‐polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib‐polydactyly syndromes, or else be related to the mechanism of short rib‐polydactyly syndromes. © 1994 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490118

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

年代:1994

数据来源: WILEY

摘要:

AbstractCraniosynostosis (CRS) is frequently seen in the del(7p) syndrome, and the gene for this cranial anomaly (CRS1) has been assigned to 7p21. We present a 3‐year‐old boy with CRS involving the sagittal and coronal sutures, who had a de novo and apparently balanced translocation, t(6;7)(q16.2;p15.3). Southern blot analysis of several loci on 7p14 → pter showed that the patient was heterozygous for HOX1I and IL6, possibly homozygous for D7S149, but hemizygous for D7S135 with a loss of the paternal allele. These findings suggest the localization of a candidate gene for CRS1 to be on 7p15.3 in the close proximity to the D7S135 locus. © 1994 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490119

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe report on a boy born with complete penoscrotal transposition, normal scrotum, twisted penile shaft with hypoplastic penile urethra, meatal stenosis, normal bladder, and bilateral cystic dysplastic kidneys. The patient died of renal failure at 2.5 months. This is the 13th reported case of complete penoscrotal transposition with normal scrotum. The possible pathogenesis is discussed and the literature is reviewed. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490120

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe report on a case of ring chromosome 5 in a 36‐month‐old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. © 1994 Wiley‐Lis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320490121

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

年代:1994

数据来源: WILEY