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Biomedical subjects

L Koulischer

Publications and source records attributed to L Koulischer.

At least 55 records · Page 3Linked to original sources
PubMed1992

Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old child.

We report a severely mentally retarded, dysmorphic girl aged 7 years with a 47,XX, +der(18), t(10;18)(p11.2;q11.2)mat. The phenotype of our patient is compared with 6 cases of trisomy 10p and 10 cases of trisomy 18q- from the literature. The short trisomic segment 10pter-10p11 appears to affect more the phenotype than the trisomic segment 18qter-q11.

Abnormalities, Multiple↗
PubMed1991

Branchial arch anomalies in trisomy 18.

The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial microsomia in a third one. Those cases point to the huge phenotypic variability of the trisomy 18.

Abnormalities, Multiple↗
PubMed1991

Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia?

The authors report a premature achondroplastic child with connatal neuroblastoma. Though this association could be coincidental, we suggest that a microdeletion inducing a contiguous gene syndrome involving the locus of neuroblastoma suppressor gene could be an alternative hypothesis. The gives a working hypothesis for the localization of the gene for achondroplasia.

Achondroplasia↗
PubMed1991

[Amniocentesis and trophoblastic biopsy. Comparison of results].

The purpose of this study was to compare the changes observed over 4 years in the prenatal diagnosis of genetic diseases and congenital malformations by amniocentesis (AC) and trophoblast biopsy (TB). Between January 1, 1986 and December 31, 1989, 2,591 requests were recorded in a wide geographical area. A general increase in the number of cases per year was observed (414 in 1986, 870 in 1989). The number of requests for TB has distinctly raised in absolute values (14 cases in 1986, 250 in 1989), as well as in relative values compared with AC (3.5% in 1986 40% in 1989). The number of foetal abnormalities detected has tended to diminish with AC (3%) and to increase with TB (4%). At the time of sampling, there was no significant difference in the mothers' mean age between AC (33.9 years) and TB (36.4 years).

Adolescent↗
PubMed1991

Enzyme immunoassay screening of alpha 1-antitrypsin in dried blood spots from 39 289 newborns.

We present a new, simple, and inexpensive sandwich-type double-antibody enzyme immunoassay for alpha 1-antitrypsin in dried blood collected on the fifth day post-partum. The method is very sensitive, having a detection limit of 2.84 fmol/well. Intra- and interassay CVs are 6.1% and 10.3%, respectively, for assay of 5-mm-diameter blood spots eluted into 7 mL of phosphate buffer. Since February 1984, we have used this method to systematically screen 39 289 consecutive births: 336 of these newborns (0.085%) showed values for alpha 1-antitrypsin below the cutoff value of 800 mg/L (50th percentile, 1470 mg/L). Of these 336 we were able to obtain 0.5 mL of serum from 161 for further testing. Four presented with a ZZ phenotype and 15 with a SZ phenotype, which indicates a deficiency in alpha 1-antitrypsin. Our data suggest a prevalence of 1.4% and 3.6% of Z and S alleles, respectively, in the French-speaking community of Belgium.

Enzyme-Linked Immunosorbent Assay↗
PubMed1990

Mental retardation, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: a new case of Hunter-Fraser syndrome.

A 21-year-old male with mental retardation, short stature, almond-shaped eyes, small downturned mouth, and coned epiphyses is presented. The clinical presentation, as well as the metacarpal phalangeal pattern profile, was similar to the affected members of a family reported by Hunter et al.: (Hunter et al.: J Med Genet 14:430-437, 1977). In addition, many features of our patient resembled Ruvalcaba syndrome. However, skeletal abnormalities were different. A reciprocal translocation was also observed in 3 members of our patient's family.

Abnormalities, Multiple↗
PubMed1990

Cytogenetic studies on wild house mice from Belgium.

The present status of Robertsonian karyotype variation in populations of wild mice from Belgium is presented. Two fusions, Rb(4.12)1Nam and Rb(5.10)3Nam, were identified in the central plain of this flat country. Surrounding this region only mice with the usual 2n = 40 karyotype occurred. From the distribution pattern some possible relationships to other Rb populations from Europe are discussed.

Animals↗
PubMed1990

The Marshall-Smith syndrome.

The Marshall-Smith syndrome is characterized by accelerated skeletal maturation, failure to thrive and dysmorphic features. This report describes the 17th published case of this rare disorder.

Bone Diseases, Developmental↗
PubMed1990

Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.

A newborn male, born to Turkish first cousins, presented with severe pre- and postnatal growth retardation. Weight was 800 g at term. Salient clinical features were dwarfism with moderate limb shortening, microcephaly, hirsutism, facial dysmorphism including prominent small cloudy eyes, large nose with high nasal root, retrognathism and low-set ears. Radiologic abnormalities included huge clavicles, dysplastic vertebrae and enlargement of proximal metaphyses with medial spurs.

Abnormalities, Multiple↗
PubMed1990

Male pseudohermaphroditism with persistent müllerian structures, mental retardation and Borjeson-Forssman-Lehmann-like features: a new syndrome?

We report two sibs with an undescribed MCA/MR syndrome. Both had a 46,XY chromosome constitution. The first patient is profoundly mentally retarded. Clinical features include short stature, coarse face, deep set eyes, microphthalmia, large ears, gynecoid obesity, imperforate anus, sacral spina bifida, pseudovaginal perineoscrotal hypospadias, persistence of Müllerian structures, and low gonadotrophin levels. His XY sib was raised as a girl. She was slightly mentally impaired. She had microphthalmia and large ears, and was short. A complete uterus with tubae and a single intraabdominal gonad with testicular organization were removed during infancy. Those anomalies do not fit any previously reported syndrome, although the general aspect of the propositus clearly resembles Borjeson-Forssman-Lehmann syndrome. Inheritance could be either autosomal recessive or X-linked.

Abnormalities, Multiple↗