[Y chromosome rearrangement and phenotypical consequences].
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Adult↗
Biomedical subjects
S Gilgenkrantz
Publications and source records attributed to S Gilgenkrantz.
Karyotype, immunophenotype, and clinical outcome: correlations in childhood acute lymphoblastic leukemia.
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Antigens, Surface↗
[Cardiovascular dysplasia in Noonan's syndrome. Apropos of 64 cases].
The multiple malformation syndrome with characteristic facies described by Jacqueline Noonan in 1963 is one of the most commonly encountered syndromes in paediatric cardiology. The series presented here comprises 64 cases, almost a quarter of which were familial (6 families). The morphotype (Turner phenotype with hypertelorism) can easily be recognized, but the variations, progressivity and resemblance to some similar syndromes imply a detailed analysis of a wide range of discriminant features. Short stature and webbed neck are less frequent than in Turner's syndrome, while mental debility and, mostly, cardiovascular lesions are much more frequent (the latter are present in 50-60% of the cases). The most typical cardiovascular lesion is pulmonary valve stenosis with dysplastic leaflets, or "atypical pulmonary stenosis syndrome", characterized by a curious electrical axis and above all, by left ventricular myocardiopathy with very peculiar deformations at ventriculography and 2D-echocardiography. In our series, myocardiopathy was even more frequent than dysplastic pulmonary valve stenosis (71.8% versus 64%). The dissemination of dysplastic lesions must be emphasized. They involve the aorta much more often than is usually reported (one-third of the cases); lesions of the lymphatic system are less frequent but may be severe. Occasionally, entirely different heart diseases, such as Fallot's tetralogy, are encountered. Owing to the relationship between its lesions and those of other multiple malformation syndromes, notably those of the phakomatosis group, and to the possibility of borderline cases with these syndromes, or even with other dystrophies, such as Williams-Beuren dystrophia, the cardiovascular dysplasia of Noonan's syndrome must be classified within the vast group of histodysplasias which are embryonic diseases of the "layers" or "neuro-ecto-mesodermoses" of unknown genetic mechanism.
Adolescent↗
[True hermaphroditism and double fertilization].
Two cases of true hermaphroditism are presented. Sex differentiation mechanism, X functions in skin development and pigmentation are studied. Lateral gender assignment in hermaphroditism and mythologic concept right side = maleness and left side = femininity are compared.
Adolescent↗
[A collaborative study of habitual abortion in couples with normal and abnormal karyotypes].
A collaborative study in 732 couples presenting repeated spontaneous abortions (RSA) and normal karyotype and in 144 couples with RSA and chromosome abnormality has been carried out involving 18 French cytogenetic laboratories. Couples with RSA and normal karyotype were classified from prior reproductive history in order to find other etiological factors. Couples with RSA and abnormal karyotype were investigated with respect to the types of aberration and familial history. Results are compared to previous reports.
Abortion, Habitual↗
[Mosaic tetrasomy 12p. Identical nature of the Pallister syndrome, the Teschler-Nicola/Killian syndrome and mosaic tetrasomy 21].
In two cases, first interpreted as mosaic tetrasomy 21, the R banding and the gene dosage studies lead us to conclude to a mosaic tetrasomy 12 p. In Pallister mosaic syndrome and in Teschler-Nicola/Killian syndrome, the very similar clinical signs and the identical abnormal chromosome, missing in leucocytes, led us to conclude that Pallister and Teschler-Nicola/Killian syndrome, as well as mosaic tetrasomy 21 are one and the same syndrome tetrasomy 12 p. This tissue limited mosaic is probably more frequent than it is assumed. Prenatal diagnosis can be made since the supernumerary chromosome is found in amniocytes. The distinctive tissue distribution is probably a selective process due to cellular differentiation gene, CD9 (or Alb 6) located to 12 p.
Aneuploidy↗
A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes.
A case of female hemophilia with a 46,XXr/45,X karyotype and signs of Turner syndrome, has been followed for the past 10 years. One of her brothers also has hemophilia A. A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of paternal origin and that the factor VIII gene region is deleted. The hemizygous state allowed expression of the hemophilia A mutation, present on the morphologically normal X chromosome, inherited from her carrier mother.
Adolescent↗
Structural genes of coagulation factors VII and X located on 13q34.
From 7 cases of abnormalities involving chromosome 13, the structural gene(s) coding for coagulation factors VII and X were located in the region 13q34-13qter. Gene-dosage effects for these coagulation factors seem to act in both directions, causing a decrease when there is monosomy of segment 13q34, but also, as has not been demonstrated before, an increase when there is trisomy of this same segment.
Adolescent↗
[Unexpected chromosomal abnormalities in prenatal diagnosis. 4 case reports with preservation of the pregnancy].
Four unexpected karyotypes were found in prenatal diagnosis: 47,XXX; 47,XXY; double reciprocal translocation; Yq-. Supplementary biological studies (including specific Y-DNA probes) are carried out in order to help in the parents' decision. No induced abortion was performed. The children are described after delivery.
Adult↗
Mosaic tetrasomy 12p.
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 names.
Abnormalities, Multiple↗
Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?
A t(X;9)(p11;q34) is reported in a girl with incontinentia pigmenti (IP). The X breakpoint is at p11.21. Although no similar case has been reported, this breakpoint may be significant insofar IP is considered an X-linked dominant mutation and could be of help in a specific X DNA probes study.
Chromosome Banding↗
[Union of 2 carriers of a balanced translocation. Familial study of 3 generations].
Both unrelated members of a couple are carrier of a balanced translocation, a reciprocal and a Robertsonian translocation, respectively. After reporting on the family investigation of these individuals, the authors analyse the offspring of six other similar couples reported in the literature.
Chromosomes, Human, 1-3↗
[Prenatal diagnosis of triploidy. I. Echographic, clinical and anatomic studies].
Three cases of triploidy have been diagnosed prenatally on ultrasonography and clinical features. A morphological and histological study of both foetus and placenta is made. The cases and a review of live-born triploid infants published in the literature allow a description of some characteristic malformations. Possibilities of triploïd pregnancy recognition are discussed.
Adult↗
[Partial trisomy of chromosome 3 resulting from paternal translocation].
The authors report a case of a 3 year-old patient presenting with partial trisomy of the short arm of chromosome 3. According to 21 previously published cases, the main features characterizing this chromosomal abnormality which is mainly observed in males are: cranio-facial dysmorphy, cardiac and genito-urinary malformations, psychomotor retardation. Cytogenetic studies always show an inherited balanced translocation allowing a possible prenatal diagnosis.
Chromosome Aberrations↗
[Prenatal diagnosis of triploidy. II. Biological studies].
In three cases of triploïdy, the origin of extra haploid set is found by chromosomal and HLA markers. It does not confirm a relationship between paternal origin and partial hydatidiform mole. In case of prenatally diagnosed triploïdy, a protocol for biological studies is suggested.
Dosage Compensation, Genetic↗
Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.
The enzymatic activity of phosphoribosylglycinamide synthetase (GARS) has been studied in several cases of partial monosomies and full and partial trisomies 21. An excess of GARS activity was found in regular trisomy 21 with a trisomy 21/normal ratio equal to 1.55. A 0.99 ratio was found in 21q21----21pter monosomy; a 0.54 ratio was found in 21qter----21q22 monosomy; a 0.88 ratio, in 21q21----21pter trisomy, and a 1.46 ratio, in 21q22.1 trisomy. Consequently, the GARS gene locus, assigned to chromosome 21, could be localized in subband 21q22.1.
Adolescent↗
[The r(14) syndrome. 3 new observations].
Three observations of r(14) are reported. Constant features of r(14) syndrome are the following: moderate but typical craniofacial dysmorphism, seizures and other neurological abnormalities, abnormal retinal pigmentation, and recurrent respiratory infections. The value of gene dosage evaluation for genes mapped to the distal segment of 14q, particularly the Ig heavy chain genes, is emphasized.
Abnormalities, Multiple↗
[Fragile site on chromosome 2 (q11) in a case of familial lymphohistiocytosis].
After recalling the main studies about the fragile sites, a fra (2) (q11) in a girl with familial lymphohistiocytosis is described. The influence of medicine, inducers, mutagenic agents are analysed.
4-Nitroquinoline-1-oxide↗