摘要:

Among a series of 98 triploid abortions, there were four specimens with two cell lines. The detection of two clones was by Q‐banding of chromosomes. Two of these four specimens were dizygotic twins, the third was either a mosaic or monozygotic twins with loss of a sex chromosome from one twin and the fourth was best explained as a chimaera which arose by fertilization of two female pronuclei by three sperms. These two unusual specimens had XYY sex chromosome complements which is rare among triploids. Two additional specimens were diagnosed clinically as possible twin pregnancies but only one cell line was identified from tissue culture. The frequency of twins was of the order of 1/3

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00415.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler‐Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme assays, and we summarize the clinical and biological characteristics of all the cases reported so far under various name

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00416.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

This study examines the association of Hirschsprung disease with Down syndrome and calculates the recurrence risk for families of Hirschsprung patients. Information was collected from 134 histologically diagnosed patients with Hirschsprung disease, from Children's Hospital in Pittsburgh, PA between 1950 and 1977. One hundred and three patients had short segment Hirschsprung disease which is defined as involvement up to and including the sigmoid colon. Thirty‐one patients had the long segment type with aganglionosis extending in some cases to the small intestine.As in other studies, we found a significant association between Hirschsprung disease and Down syndrome in that 5.9% of probands had both. Mean maternal age of cases with both Hirschsprung disease and Down syndrome (33.5 years) was significantly different from controls (26.7 years) and non‐Down syndrome Hirschsprung patients (26.6 years). The overall sex ratio for Hirschsprung disease was 3.6. Recurrence risks were dependent on proband sex and the degree of aganglionic involvem

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00417.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A patient with multiple congenital anomalies suggestive of the “Cat eye” syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated with DA. The proband's karyotype is 47, XX, + psu idic(22)(Yqter→Yq12::22p13→22q11::22q11→22p13::Yq12→Yqter), t(22;Y)(p13;q12)mat., being tetrasomic for 22pter→q11, and trisomic for Yqh. Similarity between his clinical features and reported “Cat eye” cases, confirms that this region is responsible for the phenotypical expressio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00418.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A further example of the Fryns syndrome is reported. The female infant presented a malformation syndrome with coarse facies including cleft lip and palate, distal limb hypoplasia, a diaphragmatic defect, and excessive body hair, most pronounced on the face. She died 5 days after birth. Consanguinity in the parents supports the hypothesis of autosomal recessive inheritance. Considering the severity of the internal malformations and the poor prognosis of this syndrome, prenatal ultrasound diagnosis in the 2nd trimester of pregnancies at risk should be attempted.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00419.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A distinct syndrome with hand abnormalities, joint contractures, cleft palate and a Dandy‐Walker malformation was reported by Aase&Smith (1968). This paper reports a second example of this syndrome in a mother and daughte

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00420.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Electrophysiological studies showed that a patient with Åland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retinogeniculate anomaly. Also the spontaneous and optokinetic nystagmus did not resemble that of the large majority of human albinos. The marked asymmetry found in this patient seems to be typical for humans with a defective development of foveal binocular vision. These findings are in agreement with clinical, nystagmographic and EM findings that Åland eye disease is distinct from the Nettleship‐Falls type of X–linked ocular albinism. Furthermore, Åland eye disease is different from X‐chromosomal congenital stationary night blindness with myopia by the fact that the scotopic functions are only moderately affected and there is no restriction of the peripheral photopic visual fields. In addition, there is latent nystagmus of extraocular type that appears also in female carriers. There is no ophthalmoplegia, there is a progression of the myopia and the dyschromatopsia is of second

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00421.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at‐risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state. Suggestions are given for evaluation of the hair in individuals in Menkes pedigree

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00422.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Analysis of the karyotype of an azoospermic 27‐year‐old man, without any dysmorphism, showed the presence of a ring chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00423.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A 24‐year‐old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1→p22) was found in her karyotype. Other published cases with 8p trisomy are rev

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00424.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY