Biomedical subjects
Publications and source records attributed to A Delicado.
Two infants with complete trisomy of chromosome 9 are described. One patient, died a few minutes after birth and another survived 24 hours. The main clinical findings in this syndrome are: intrauterine growth retardation, characteristic facial dysmorphism, hypoplastic external genitalia and malformations of heart, brain and skeleton.
Six males, four adults and two children, with very important mental deficiency and speech disturbances, belonging to two families are presented. The six patients show the clinical peculiarities of the "X-linked mental retardation, macroorchidism, and the Xq27 fragile site", but the chromosomal alteration only was presented in five cases. Patient who did not have the chromosomal defect presented the same IQ than his brothers, but he had a less severe macroorchidism, a better speech and more normal clinical features. One of the patients shows a shorter arm which linkage with the syndrome is discussed.
A child with a facial dysmorphy and congenital malformations, showed in the chromosome analysis a partial trisomy of chromosome 20. This anomaly, resulted from a maternal translocation t(11;20), (q35;q11).
Two cases of trisomy 9p, are reported affecting different break points involving chromosome 9; one of them showed skeletal abnormalities of importance. An analysis of the two cases reported is done and some of the last hypothesis in order to determine genetical and clinical correlations of the syndrome are considered.
This report describes an azoospermic male carrying a Y/autosome translocation. The patient had a 46,X,t(Y;10)(q12;p13) chromosome complement in a lymphocyte culture. The cytogenetic study of this patient is described, together with testicular histology, spermiogram, hormone levels, and clinical history.
A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being 47,XX,+del 14(q24). Chromosome analysis of the parents was normal.
A family is described with a translocation t(10;21)(q22;q22) transmitted through three generations. This family was studied for the apparition of several miscarriages and two sisters with multiple malformations. Both children had a probably partial trisomy of chromosome 10 and a monosomy of chromosome 21 due to a maternal adjacent-2 meiotic segregation.
A two month old boy with multiple malformations: mental retardation, microcephaly, hyperterloism, displasic ears, hypospadias, unilateral cryptorchidism and holoprosencephaly is presented. In leukocytes culture, patient shows a deletion of the short arm of a 18 chromosome. This aberration apears "de novo" in this patient.
A fourteen years old girl, with short height and primary amenorrhea is presented. Laparoscopic examination revealed bilateral gonadal streaks. Chromosome analysis from leukocyte culture, revealed mosaicism with a predominant cell line del 45,X and another cell lines del 46,XXX/46,X,r(X)46,X,del(X)/47,XX,r(X)47,XXdel(X)/48,XXXX.
A three month old male with Down's Syndrome is presented. Cytogenetic studies reveal a count of 46 chromosomes with a G/G "tandem" translocation. New staining techniques show the marker chromosome closed at both ends and with two symmetrical bands.
This paper describes a case of Klinefelter's syndrome with 48,XXYY. Patient had mental retardation and dysmorfic face. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when small testes, gynecomastia and other phisical stigmata may become apparent.