Tetrasomy 18p in a child with trisomy 18 phenotype.
We report on a patient with trisomy 18 syndrome and tetrasomy 18p. The case indicates that the presence of an isochromosome i(18p) can mimic complete trisomy 18 syndrome.
Chromosome Aberrations↗
Biomedical subjects
G Kohn
Publications and source records attributed to G Kohn.
Congenital hereditary hypothyroidism--prenatal diagnosis and treatment.
Intrauterine diagnosis of congenital hypothyroidism was established on the basis of TSH concentration in amniotic fluid in the 22nd week of gestation for the offspring of a couple both known to have an iodide organification defect. Prenatal treatment consisted of intramniotic injections of 500 mcg Na-1-thyroxine, which was administered from the first amniocentesis until one week before delivery. Following delivery, the diagnosis was confirmed by the elevated level of TSH, 60.5 uU/ml, and a gradual decrease of fT4 to 0.8 ng/ml. Regular substitution therapy was commenced on the third day of life. The normal shape and location of the thyroid gland was demonstrated by Technetium scintiscan. At 18 months the infant revealed no significant deviation from normalcy in growth or mental capacity. This experience indicates that testing of amniotic fluid for TSH in the 22nd week of gestation can be diagnostic for congenital primary hypothyroidism. Furthermore, it is suggested that the treatment approach described is warranted in all cases in which there is a high risk of congenital primary hypothyroidism.
Amniotic Fluid↗
Muscle involvement in mucolipidosis IV.
A 15-month-old boy, thought to have a congenital myopathy, was subsequently diagnosed as having mucolipidosis type IV, with typical membranous inclusions in muscle fibers. Involvement of skeletal muscle in this lysosomal storage disease may explain the motor delay and hypotonia that are its most common presenting signs.
Conjunctiva↗
Determination of surface bound and shed HLA antigens of amniotic cells by ELISA.
HLA typing of amniotic cells for clinical purposes using the conventional cytotoxicity assay is a laborious and complicated procedure. In the present study we demonstrate that HLA class I typing of the fetus can be determined using the enzyme linked immunosorbent assay (ELISA) either on amniotic cells or soluble free antigens shed by the cells into the culture medium. Our results indicate that the ELISA technique is a sensitive and reliable assay that can be used as an alternative method of HLA class I typing of amniotic cells.
Amniotic Fluid↗
New chromosome aberration: duplication of a large part of chromosome 4q and partial deletion of chromosome 1q.
We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,-1,+der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.
Abnormalities, Multiple↗
Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type.
Two unrelated families are presented, each with 2 affected offspring with bifid femur, absent tibia, and ectrodactyly. The healthy parents are consanguineous. It is postulated that this combination of malformations is causally heterogenous with both autosomal dominant and autosomal recessive modes of inheritance; hence, it is established as a developmental field defect.
Abnormalities, Multiple↗
New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence.
Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits.
Child↗
Chorionic villi sampling for early prenatal diagnosis: an option for the Jewish orthodox community.
The Jewish religion permits abortion up to 40 days after conception. To accommodate the Jewish orthodox community, prenatal diagnosis in the eighth gestational week may be a feasible goal with clear benefits. We present our experience with chorionic villus sampling (CVS), wherein out of 144 patients requesting CVS, 125 were found to be suitable for the procedure. Excluding patients with fundal placenta and cervical or uterine myoma, chorionic sampling was successfully performed on 102 out of 106 patients (96.2%) and a chromosome result was available for 98 of those patients (96%). Fetal losses, within 14 days following procedure, were 2 out of 125 (1.6%). No complications were encountered following the procedure. The cytogenetic analysis was improved by culturing CVS fragments for 48 h, after which clearer banding patterns could be observed. One of the CVS preparations, from a 7.2/7-week-old embryo was successfully examined. Short-term (6 days) cultures were used as an additional method for chromosome analysis, to extend and confirm results obtained by the direct method.
Abortion, Spontaneous↗
Clinical spectrum of mucolipidosis type IV.
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Corneal Opacity↗
Isolated "clinical anophthalmia" in an extensively affected Arab kindred.
A highly inbred kinship is described, in which 19 individuals were afflicted with bilateral profound microphthalmia without associated anomalies and with normal intelligence. Autosomal recessive inheritance is demonstrated. This kindred is instructive for genetic counseling since the affected individuals always have bilateral microphthalmia in the absence of other affected organ systems.
Consanguinity↗
Trisomy 18 mosaicism in an adult with normal intelligence.
A healthy 30-year-old woman was discovered unexpectedly to have trisomy 18/normal chromosome mosaicism. She was ascertained because of a history of three spontaneous abortions following the birth of a healthy son. Trisomy 18 was present in 18% of her lymphocytes and 2% of her cultured skin fibroblasts. She had several minor malformations associated with trisomy 18 syndrome. She is, to our knowledge, the first person who has clinical stigmata of trisomy 18 but has normal intelligence and leads a normal family life.
Abortion, Habitual↗
The amniotic band syndrome: a possible complication of amniocentesis.
Malformations of the upper distal extremities were noted in an otherwise healthy infant whose mother underwent diagnostic amniocentesis. A causal relationship is postulated.
Amniocentesis↗
Hereditary hypotrichosis simplex of the scalp.
Hereditary hypotrichosis simplex of the scalp is a rare trait with onset in early childhood. This phenomenon has been reported only once previously, in a Spanish kindred. This communication describes a case in a Jewish-Yemenite kindred with 51 affected individuals and confirms autosomal dominant inheritance.
Adult↗
Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.
A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents. The mode of inheritance is compatible with that of an autosomal recessive disorder. The identification of this variant is important, as it enables more precise counselling in families in which sporadic cases with this form of presentation are found.
Consanguinity↗
Cystinosis phenotypes have identical defective cystine clearance pattern.
Exposure of cultured skin fibroblast of normal, infantile nephropathic, juvenile-late-onset and adult type cystinotic patients and their corresponding obligate heterozygotes to 0.5 mmol/l of 35S cystine dimethyl ester for 30 minutes, resulted in an accumulation of cystine within the cells, and was used to look for differences in cystine clearance between the different cell types. The results suggested that all cystinotic variants are defective in their capacity to eliminate cystine to the same extent. The presented data imply that, separate clinical phenotypic variants of cystinosis, cannot be differentiated biochemically by the assay of cystine egress.
Adult↗
Partial deletion of the short arm of chromosome 3: further delineation of the 3p25-3pter syndrome.
A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.
Abnormalities, Multiple↗
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy.
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) deficiency has a high prevalence within the Arab population of the Gaza strip and is characterised by marked virilization at puberty, leading in many cases to the spontaneous adoption of a male gender role. As a result of this, parents of 7 affected male infants (aged 1-10 months) born with female phenotype requested early gender reassignment. Diagnosis was suspected in 5 on the basis of a positive family history, but confirmed in all cases by the finding of low to normal testosterone levels (30-184 ng/dl) with high delta 4-androstenedione levels (188-808 ng/dl), after hCG. Treatment with im testosterone oenanthate (25-50 mg/dose) was given in one to three 3-months courses and penile size was increased into the normal range without evoking a significant increase in height velocity or skeletal maturation. Five patients underwent the first stage of male genitoplasty between 2 and 3 years of age. This consisted of bilateral orchidopexy, chordee release and penile lengthening - yielding finally an anatomically normal-sized and shaped penis. Androgen responsive male pseudohermaphroditism due to 17 beta-HSD deficiency or a similar defect and diagnosed in infancy should be treated as soon as possible with systemic testosterone before considering any sex change, and in preparation for male genitoplasty. Early gender reassignment according to genetic and gonadal sex is probably the management of choice for these cases since this may result in a normal adjustment to the male gender role, particularly after puberty.
17-Hydroxysteroid Dehydrogenases↗
Incorporation of [14C]glucose into alpha-1,4 bonds of glycogen by leukocytes and fibroblasts of patients with type III glycogen storage disease.
In two patients assay of alpha-1,6-amyloglucosidase activity by incorporation of [14C]glucose into glycogen revealed normal activity in leukocytes, erythrocytes, and fibroblasts, whereas no activity was detected in liver and muscle. No activity in any tissue was found when enzyme activity was assayed by following the release of glucose from a phosphorylase limit dextrin. Labeling of glycogen by incubation with crude tissue homogenates according to the protocol used for the [14C]glucose method and subsequent degradation of the outer portion of the polysaccharide molecule with beta-amylase showed that with tissues from normal controls more than 90% of the label of the glycogen was retained in the limit dextrin. When fibroblasts or leukocytes of the patients served as enzyme source up to 80% of the label was released after incubation with beta-amylase or phosphorylase a. Addition of Tris to the assay inhibited enzyme activity in fibroblast homogenates of the patients and of controls to the same extent and had no effect on the distribution of the label between supernatant and limit dextrin after beta-amylolysis of the labeled glycogen. A pH curve performed with fibroblast preparations from the patients and a normal control did not reveal differences in the effect of changes in pH on [14C]glucose incorporation. We propose that incorporation of [14C]glucose into glycogen by the enzyme present in the patients' cells was into alpha-1,4 linkages in glycogen.
Cells, Cultured↗