PubMed Health⌕ Search

Biomedical subjects

F Salamanca

Publications and source records attributed to F Salamanca.

17 recordsLinked to original sources
PubMed1992

Isolated congenital heart defects in first degree relatives of 185 affected children. Prospective study in Mexico City.

Parents (n = 355) and siblings (n = 313) of 185 index cases (IC) with congenital heart disease (CHD) were cardiologically evaluated. In the consecutive sample (2 years) Mendelian and chromosome syndromes were excluded. Four patients and nine siblings had CHD. The frequency of affection in siblings was 2.6% (8 in 313 siblings). All affected relatives are under medical care at the Centro Médico Nacional Siglo XXI, IMSS. In 10 of the 12 affected relatives found, the type of CHD was discordant from that of the IC. Discordance was found also in 9 of 36 IC with two or more CHD. An interpretation is given: if the mutated gene(s) has its effect in early embryological stages, affected relatives may have any type of CHD, but if the alteration occurs later, concordance is expected to be found. This model contributes also in explaining the remarkable genetic heterogeneity that exists in CHD.

Adolescent↗
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↗
PubMed1979

Frequency of sister chromatid exchanges in severe protein calorie malnutrition.

Nine children with severe protein calorie malnutrition were studied regarding the frequency of sister chromatid exchanges (SCE's) in peripheral blood lymphocytes. The results showed that there was no significant difference between the number of SCE's in the malnourished children as compared to an adequate control group. An interesting finding was that the proportion of 3rd or subsequent division metaphases found in the malnourished children, was higher and significantly different from that seen in the control group.

Adult↗
PubMed1977

45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature.

A 4 year 7 month-old boy with ambiguous genitalia, histological evidence of mixed gonadal dysgenesis, and 45,X/46,X,dic(Yq) mosaicism is reported. The identity of the dicentric Y chromosome was stablished by its typical fluorescent banding patterns and the presence of two centromeres demonstrated by C-band technique. A review of the literature yielded nine additional cases of mosaic 45,X/46,X,dic(Yq). Phenotypical and histological findings among these cases were compared, and the possible localization of the genes responsible for testicle induction and maturation is discussed.

Child, Preschool↗
PubMed1975

Familial true hermaphrodism in three siblings: clinical, cytogenetic, histological and hormonal studies.

Three affected siblings with the hermaphrodism are described. The propositi showed the following characteristics: male phenotype and gender role, hypospadias, bilateral scrotal ovotestes with palpable nodules, and absence of müllerian structures. The X chromatin was positive and the Y chromatin was negative in the 3 affected subjects. Their karyotype in peripheral blood lymphocytes and in gonadal fibroblasts was 46,XX and no Y chromosome fluorescence was observed. Plasma FSH was elevated in the 2 older patients and plasma LH was elevated only in the oldest. Plasma testosterone was low and plasma estradiol high in the 3 siblings; plasma progesterone was elevated in 2, but normal in 1 sibling. Since some of the clinical characteristics of these 3 affected siblings are not the most common features in the majority of sporadic cases of true hermaphrodism, it is suggested that the presence of all of them may be the first clue for the clinical suspicion of the familial type of true hermaphrodism.

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↗
PubMed1975

Human acrocentric ring chromosomes and satellite association.

In four cases of human acrocentric ring chromosomes r(21)(p13q22); r(21)(p11q22); r(13)(p11q?); and R(21)(P11Q22), association of the annular with normal D and G chromosomes was found. This finding indicates that: 1) the "satellite" association is not terminal 2) the heterochromatic region (band p11) adjacent to the acrocentric short arm constriction contains nucleolar organizers (NOs), although bands p12 and 13 could not be excluded; and 3) band p11 probably has two different functional sites, a distal NO+ and a proximal NO-. Related studies on three C/G translocation carriers suggest a non-specific interphase interchromosomal relationship.

Chromosome Aberrations↗
PubMed1975

The 12p trisomy syndrome.

Trisomy for the short arm of chromosome number 12 was diagnosed (by a G-banding method) in a girl with multiple congenital defects. Her mother and two sisters showed a balanced translocation 46,XX,rcp(12;21)(p11;p11), so, the affected girl was the result of a maternal adjacen t-1 meiotic segregation with a karyotype 46,XX,der21,rcp(12;12)(p11;q11)mat. Another sister decreased at 3 yr of age showed similar phenotypical features and was considered also affected although no karyotype studies were performed. Both affected cases were compared with a previous one and the concordant characteristics allowed the individualization of the following syndrome: severe mental retardation, peculiar flat facies with prominent checks, epicanthic folds, broad and irregular implantation of the eyebrows, broad and flat nasal bridge with short and narrow nose, anteverted nostrils and large philtrum, broad and prominent lower lip, low set ears with folded helix, prominent anthelix and deep concha, "spade" shape fingers (sharp-pointed distal phalanges) with shortness of the fifth, bilateral genu valgum, slightly increased space between first and second toes, secral dimple, generalized hypotonia and hyporeflexia of knees and ankles, nistagmus, retarded and dysrythmic bone age, simian creases or equivalent and distal axial triradii.

Abnormalities, Multiple↗
PubMed1975

Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome.

The presence of a structurally abnormal extra chromosome in a patient with Sturge-Weber syndrome and several members of her family is described. With routine techniques the abnormal chromosome is slightly submetacentric, of the size of a G group chromosome and shows satellites on both arms. C-banding suggested the presence of 2 centromeric regions rather than one, and to explain this finding, in addition to the segregation of the abnormal chromosome through 3 generations and why only one centromere is visible with the usual cytogenetic technique, an hypothesis is advanced suggesting that it resulted from an unusual type of Robertsonian translocation, in which one of the breacks involved directly the centromere of an acrocentric producing a partially dicentric bisate-lited chromosome. The association of Sturge-Weber syndrome with the chromosome abnormality is thought to be fortuitous and the lack of clinical manifestations of all members of this family with the abnormal chromosome, including one with two extra ones, is explained by the fact that it was almost entirely formed by heterochromatic material. The usefulness of C-banding in the study of this patient is strongly emphasized.

Angiomatosis↗