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Biomedical subjects

A Carnevale

Publications and source records attributed to A Carnevale.

At least 73 records · Page 4Linked to original sources
PubMed1981

Induction of ovulation in a true hermaphrodite with male phenotype.

Ovulation was induced in a 16-yr-old 46 XX/47 XXY true hermaphrodite with a male phenotype. The presence of testicular tissue was assessed by a normal androgen response to hCG. Administration of FSH and LH for 8 consecutive days, followed by a single dose of hCG, induced a biphasic serum profile of 17 beta-estradiol and progesterone similar to that observed in normal menstrual cycles. In addition, a significant rise in serum testosterone was noticed during the luteal phase. Laparotomy revealed the presence of a uterus, with evidence of endometrial bleeding and absence of a vagina. These results demonstrated that gonadotropins were able to induce follicular maturation, ovulation, and endometrial bleeding in a true hermaphrodite resembling a normal ovulatory cycle. Gonadotropin administration can be used as a diagnostic tool for establishing the presence of ovarian tissue in this gonadal development abnormality.

Adolescent↗
PubMed1980

A new syndrome of triphalangeal thumbs and brachy-ectrodactyly.

Two Mexican families in which a total of 17 persons exhibited the same pattern of limb malformations are described. The syndrome is characterized by triphalangeal thumbs and brachydactyly affecting the index fingers and the third toes. The clinical findings are variable and the inheritance is autosomal dominant. The syndrome, to the best of our knowledge, has not been described before.

Adolescent↗
PubMed1979

Ring chromosome 6 in a child with minimal abnormalities.

We describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases. Five other patients with a ring 6 have been reported. The clinical and cytogenetic observations of all six patients are compared and discussed.

Body Height↗
PubMed1979

Variability between and within laboratories in the analysis of structural chromosomal abnormalities.

The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different laboratories, was studied by six observers. The results were analyzed in order to determine the relative importance of inter- and intralaboratory factors in the variability of chromosomal abnormalities. In addition to the difference in the frequency of the abnormalities between the subjects studied, there were differences due to observers from different laboratories (P less than 0.01), as well as between laboratories (P less than 0.01). These results could be explained in part by insufficient agreement between observers from different laboratories and by differences in the quality of the method used.

Adult↗
PubMed1978

Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11).

A boy with trisomy of the short arm of chromosome 7 is reported. He presented several congenital malformations, such as: dolicocephaly; wide fontanelle; hypertelorism; antimongoloid slanting of the palpebral fissures; small, carp-shaped mouth; thin neck; extrinsic compression of the oesophagus; congenital dislocation of the shoulders and hips; and a possible cardiac defect. The proband's mother had a balanced translocation involving the short arm of chromosomes 7 and 14. In this family the translocation has been transmitted through three generations.

Abnormalities, Multiple↗
PubMed1976

Congenital absence of gluteal muscles. Report of two sibs.

A family is described with the following features: 1) Two propositi, a male and a female, with congenital absence of gluteal muscles and with spina bifida occulta. 2) Both parents and two apparently normal siblings with sacral spina bifida occulta. 3) Two siblings of the propositi who died soon after birth, one with anencephaly and the other with a probable spina bifida. Two alternative hypotheses for the etiology of these malformations are suggested: first, the muscular defect could be caused by an autosomal recessive gene independent of the open neural-tube defects; second, both types of malformations could be due to the same autosomal recessive gene. Then compensatory muscular changes which allow the propositi to walk are discussed.

Anencephaly↗
PubMed1976

The segregation of C-band polymorphisms on chromosomes 1, 9, and 16.

Eleven normal families with at least four children were studied cytogenetically using the C-band technique to identify polymorphisms in the constitutive heterochromatin of chromosomes 1, 9 and 16. Thirteen individuals showed one or more variants in such chromosomes. The analysis of the segregation ratios in the 35 offspring of these 13 individuals showed that these marker chromosomes generally segregated according to the expected 50:50. However, one of these variants, chromosome no. 9 with an increased heterochromatin block in the secondary constriction, has an apparently preferential segregation, when the findings from this study are combined with those of other authors.

Chromosomes, Human, 1-3↗
PubMed1975

Neuroichthyosis with hypogonadism (Rud's syndrome).

Rud's syndrome is a neuroichthyosis with hypogonadism, associated with mental deficiency and epilepsy. Short stature is a frequent component of the syndrome. The primary genetic defect and the pattern of inheritance have not yet been determined. A typical patient is presented, with mental deficiency, short stature, pypoacusia, muscular atrophy, tylosis, pseudoacanthosis nigricans and endocrine disturbances. The neuroichthyosis with hypogonadism must be considered Rud's syndrome. A classification of neuroichthyosis is proposed. In a first group is neuroichthyosis with hypogonadism, in the second group is neuroichthyosis with spasticity and in the third group, neuroichthyosis without hypogonadism or spasticity.

Adolescent↗
PubMed1975

Trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

Trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.

Abnormalities, Multiple↗