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Biomedical subjects

V B Penchaszadeh

Publications and source records attributed to V B Penchaszadeh.

18 recordsLinked to original sources
PubMed1992

Double mosaic aneuploidy: 45,X/47,XY,+8 in a male infant.

We report on a 13-month-old boy with abnormalities consistent with mosaic trisomy 8 syndrome and male genitalia with partial penoscrotal transposition without hypospadias, a retractile left testis in inguinal canal, and an absent right testis. A voiding cystourethrogram showed an outpouching close to the lower right side of the bladder (utriculum) and bilateral hydronephrosis secondary to vesicoureteral reflux. Peripheral blood karyotype was 45,X/47,XY,+8. The karyotype of cultured skin fibroblasts was 47,XY,+8 with no 45,X cells detected among 20 cells counted. Tissues removed during surgery documented a 45,X/47,XY,+8 complement in the left testicle and utriculum, but only a 45,X line among 20 cells counted from vas deferens tissue. A possible mechanism for the origin of this previously unreported mosaicism might be an abnormal zygote with a 47,XY,+8 complement with subsequent simultaneous loss of chromosome Y and 8 in a cell at a very early embryonic stage.

Aneuploidy↗
PubMed1992

Abduction of children of political dissidents in Argentina and the role of human genetics in their restitution.

Between 1976 and 1983 a brutal military dictatorship governed Argentina. The most basic human rights were severely violated and the method of forced disappearances of approximately 30,000 political dissidents was instituted. In this process, about 300 babies and children of the disappeared victims were also abducted by the military and given to childless families linked to the security forces. Women whose children and grandchildren had disappeared organized themselves as Grandmothers of Plaza de Mayo to search for their missing loved ones. This search was aided by human geneticists from different parts of the world who provided the scientific basis to establish the genetic identification through "grandpaternity testing," and by mental health professionals who provided the psychological theory supporting restitution of appropriated children to their legitimate families. Thus far, close to 50 children have been located, identified and restituted.

Adoption↗
PubMed1989

A new syndrome with distinct facial and auricular malformations and dominant inheritance.

We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.

Abnormalities, Multiple↗
PubMed1987

Interstitial deletion of chromosome 2 (p23p25).

We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.

Abnormalities, Multiple↗
PubMed1987

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.

We report on a 46,XY newborn infant with Smith-Lemli-Opitz (SLO) syndrome with female external genitalia, intraabdominal testes with epididymides and deferent ducts and a normally shaped uterus and vagina. Polydactyly, cleft palate, and several internal organ malformations were also present, and the patient died shortly after birth. Data on six reported male infants with SLO syndrome and female external genitalia suggest a correlation between degree of genital involvement and overall degree of severity. Scoring systems to quantify overall degree of severity (SLO score) and degree of genital involvement in males (genital score) were devised and applied to 122 reported cases from the literature. Statistical analyses showed a unimodal distribution of the SLO severity scores, and positive correlations between the SLO score and the genital score in males, the presence of polydactyly, and the presence of cleft palate. In 19 multiplex families the affected sibs were generally similar in their SLO scores. The above analyses suggest that the wide phenotypic variability in the SLO syndrome is determined by variable expressivity of the same entity as opposed to genetic heterogeneity. The observed phenotypic correlations naturally determine that males with complete feminization are among the more severe patients and tend to have polydactyly and cleft palate.

Abnormalities, Multiple↗
PubMed1978

Inherited parital duplication deficiency of chromosome 15 (p12;q22).

Description of a boy aged 20 months presenting growth and mental retardation as well as several minor anomalies : brachycephaly, antimongoloid slant of the palpebral fissures, dystopia canthorum, broad nose, low set ears and short fingers. Chromosome analysis revealed an abnormal No. 15 with duplication of the distal half segment of its long arm (q22 leads to qter) and deficiency of the distal band of its short arm (p13). This anomaly was inherited by recombination aneusomy of a pericentric inversion carried by his mother : inv(15) (p12;q22).

Chromosome Aberrations↗
PubMed1977

Partial deficiency of long arm of chromosome No. 11.

A child is presented with slight psychomotor retardation and few minor anomalies, in whom the cytogenetic analysis revealed a de novo translocation between the long arms of chromosomes 8 and 11, with deficiency of a small distal segment of 11q.

Child Development↗
PubMed1977

Trisomy for the short arm of chromosome No. 10.

To the authors knowledge there is a single previous report of confirmed trisomy for the short arm of chromosome No 10 (Hustinx et al., 1974). In this paper we present a further case of trisomy 10p, resulting from 3 : 1 segregation of maternal balanced translocation, t(3;10)(q;11), in a female infant aged 7 months and showing numerous somatic anomalies.

Abnormalities, Multiple↗
PubMed1975

Trisomy 22. Two new cases and delineation of the phenotype.

Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth retardation, microcephaly and craniofacial asymmetry, strabismus, beaked and prominent nose, long philtrum, cleft palate, micrognathia, large low set ears with preauricular tags and/or pits, long slender fingers, congenital heart disease, inguinal hernia, and hip dislocation.

Abnormalities, Multiple↗
PubMed1975

A case of ring 18 chromosome in a sibship with multiple spontaneous abortions.

We report the study of a female infant with physical stigmata suggestive of 18 chromosomes deletion, in whom cytogenetic studies revealed a 446,XX,r(18) complement. She was the last born of a sibship of seven composed otherwise by three spontaneous abortions, two perinatal deaths and one living female. The chromosome studies of the parents were normal. The cytogenetic finding and the phenotype are discussed in relation to the 18 chromosome deletion syndromes. The phenotype of the propositus would indicate that her ring 18 is significantly deficient of long arm segment. The apparent sporadic occurrence of this chromosomal anomaly in this family is discussed.

Abnormalities, Multiple↗