Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families.

Two Mexican families from the State of Jalisco have been studied in which 11 members were carriers of Hb Tarrant. Ten subjects were Hb Tarrant heterozygotes producing about 25% of the abnormal hemoglobin. One 9-year-old boy was homozygous for Hb Tarrant.

A screening test for phosphoglycerate kinase deficiency.

A simple screening test for the detection of X-linked recessive phosphoglycerate kinase (PGK) deficiency in blood is described. It is based on the conversion of 3-phosphoglycerate to 1,3-diphosphoglycerate catalyzed by the PGK whose activity is visually estimated by the oxidation of NADH (fluorescent) to NAD+ (non-fluorescent) in a coupled reaction with the enzyme glyceraldehyde 3-phosphate dehydrogenase. The disappearance of fluorescence indicates PGK activity in the sample, while the contrary could be due to PGK deficiency.

Simultaneous trisomy 10q24 leads to qter and monosomy 4p16: an example of epistasis at the chromosome level.

A family with a reciprocal translocation (4;10)(p16;q24) leading to a simultaneous 10q24 leads to qter trisomy and partial 4p16 monosomy in two females (niece and aunt) is described. Comparative analysis with previously reported cases corroborates a distinctive dysmorphic syndrome due to the 10q24 leads to qter trisomy whose phenotypical expression is dominant over that of the 4p16 monosomy and those produced by other partial monosomies. This phenomenon is interpreted as epistasis at the chromosome level.

Trisomy 22q12 leads to qter: "aneusomie de recombinaison" of a pericentric inversion.

A 10-day-old girl affected with 22q12 leads to qter "pure" trisomy as a consequence of recombination within a maternal pericentric inversion (22)(p13q12) is described. A phenotypical comparative analysis reveals that the proposita's phenotype is strikingly similar to that of the trisomy 22 syndrome. Arylsulphatase-A activity was above normal levels and interpreted to be the result of a triple dosage of the gene, whose localization would be within the 22q12 leads to qter segment.

Meiotic arrest at first spermatocyte level: a new inherited infertility disorder.

Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizing(LH) and normal to elevated follicle-stimulating (FSH) hormones, positive gonadotropin pituitary response to luteinizing hormone-releasing hormone, depletion of LH and FSH levels by exogenous testosterone (T) administration, normal levels of T and dihydrotestosterone hormones, and elevation of T after stimulation with human chorionic gonadotropin hormone. Electrophoretic assay of lactic dehydrogenase isozymes did not reveal band C4 in semen or testicular tissue.

A simple screening procedure for glucose phosphate isomerase, phosphofructokinase, aldolase and glyceraldehyde-3-phosphate dehydrogenase deficiencies.

A simple screening procedure for the detection of glucose-phosphate isomerase (GPI), phosphofructokinase (PFK), aldolase (AL) and glyceraldehyde-3-phosphate dehydrogenase (GAPD) deficiencies in blood, is described. These enzymes catalyze the second, third, fourth, and sixth reactions in the Embden-Meyerhof pathway. The procedure is based on the conversion of glucose-6-phosphate to 1,3-diphosphoglycerate (1,3-DPG) which is catalyzed by the sequential action of the GPI, PFK, AL and GAPD.

Keratosis palmaris et plantaris with clinodactyly. A distinct autosomal dominant genodermatosis.

Keratosis palmaris et plantaris and clinodactyly of the 5th finger was diagnosed in 11 members of a family with a typical pattern of autosomal dominant inheritance. It is concluded that both traits are probably the expression of a single mutant gene (p less than 0.001).

Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder.

Two sisters, aged 18 and 11 years, were found to have an intrauterine growth retardation-malformation syndrome which included camptodactyly as a typical sign. The overall analysis of the clinical and radiological findings permitted the individualization of a distinct entity. The family data suggested autosomal recessive inheritance.

A syndrome with mixed deafness, Mozart ear, middle and inner ear dysplasias.

A 10-year-old boy presenting a disorder of multiple malformations with an otologic component consisting of mixed deafness, Mozart ear, thin stapes, small oval window and agenesis of the semicircular canals, was studied. A comparative analysis of similar malformation-entities has permitted the delineation of a previously undescribed syndrome.

Peutz-Jeghers syndrome with feminizing sertoli cell tumor.

A case involving a 6-year-old boy with Peutz-Jeghers syndrome and an unilateral feminizing Sertoli cell tumor is described. Endocrinologic studies revealed consistently high plasma and urine levels of estrogens and normal levels of testosterone and dihydrotestosterone. The increased levels of estrogens did not show changes that could be correlated with exogenous gonadotropin administration, thus indicating an autonomous nature.

Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency).

An 18 year-old 46,XY female-reared patient with incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency) was studied. She had a male habitus, Wolffian ducts derivatives, normal testes and small phallus; there were no Mullerian duct derivatives nor gynaecomastia. Clinical and genetic data were typical of the diagnosis which was corroborated by endocrinological studies.

Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome.

A boy aged 2 years 8 months presenting the Rubinstein-Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS.

Autosomal recessive inheritance of atrichia congenita.

Two families, each with two sibs presenting atrichia congenita, were studied. Histopathological studies of scalp biopsies from affected revealed absence of hair follicles. The pedigree data were interpreted as corroborative of a previously postulated autosomal recessive pattern of inheritance.

[Van der Woude's syndrome].

Seven males and seven females from three different families with the syndrome of cleft lip--palate and congenital lower--lip pits, also called van der Wound's are described. An autosomal dominant pattern of inheritance was compatible in the three families. The incomplete penetrance and variable expressivity of the syndrome are analyzed and some aspects of genetic counseling are discussed on the basis of empirical recurrence risks already established for this disorder.

Detection of hemoglobin alterations in a sample population in northwest Mexico. Preliminary report.

Blood samples from 1,000 individuals seen at the Instituto Mexicano del Seguro Social in northwestern Mexico were assayed by multiple systems (acid, alkaline and neutral electrophoresis, heat, freeze and isopropanol stability and erythrocytic morphology under hypoxia) to detect hemoglobin (Hb) abnormalities. Two beta-thalassemia heterozygotes (0.2 per cent), five Hb S heterozygotes (0.

A simple assay for uridine diphosphate galactose 4-epimerase activity.

A simple fluorescent test for the activity of blood uridine diphosphate galactose 4-epimerase which converts uridine diphosphate galactose to uridine diphosphate glucose is described. The enzyme activity is visually estimated by to reduction of NAD+ (non fluorescent) to NADH (fluorescent) in a coupled reaction with uridine diphosphate glucose dehydrogenase. The appearance of fluorescence indicates that epimerase activity is present in the sample.

Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome.

Three sibs from a Mexican mestizo family affected with a spondylo-epi-metaphyseal dysplasia were studied. The clinical, radiological, and genetic findings were similar to those previously described in Venezuelan Indians of the Irapa tribe. The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance.

Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation.

A 3-month-old boy with a 46,XY,--21,+t(21;21)(pter leads to q22.3::q22.3 leads to q11::p11 leads to pter) karyotype, implicating trisomy for the 21q11 leads to 21q22.

A simple screening procedure for adenylate kinase, hexokinase and glucose-6-phosphate dehydrogenase deficiencies.

A simple screening procedure for the detection of adenilate kinase (AK), hexokinase (Hx) or glucose-6-phosphate dehydrogenase (G6PD) deficiencies in blood, is described. It consists of two assays : in the first, the ATP formed by blood AK is coupled to Hx and G6PD, and in the second, the glucose-6-phosphate formed by blood Hx is coupled to G6PD. The enzyme activities are visually estimated by the reduction of NADP+ (non-fluorescent) to NADH (fluorescent).

A distinct variant of the Ehlers-Danlos syndrome.

Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded.

Heterozygous expression in 3-M slender-boned nanism.

A 15-year-old girl affected by autosomal recessive 3-M slender boned nanism (3-MSBN) was studied. The clinically normal parents, two other obligate and two probable heterozygotes for the 3-MSBN gene from an unrelated family were radiologically investigated. All except one probably heterozygote showed mild features of the 3-MSBN, mainly bone slenderness and prominent talus.