Biomedical subjects

A Delicado

Publications and source records attributed to A Delicado.

16 recordsLinked to original sources

PubMed1991

A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).

We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed.

Abnormalities, Multiple↗

PubMed1990

Trisomy 13 syndrome and neural tube defects.

Abnormalities of the CNS, such as arhinencephaly or holoprosencephaly, are common findings in trisomy 13 syndrome. However, neural tube defects (NTDs) are rarely reported. A review of 267 patients in the literature on reported CNS developmental defects in trisomy 13 syndrome showed only 6 patients with lumbosacral NTDs. No case of encephalocele or anencephaly was found. We report on 3 patients with spina bifida from the records of 34 necropsies of karyotyped trisomy 13 syndrome, which were found among 403,710 births.

Abnormalities, Multiple↗

PubMed1990

Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome.

A girl aged 4 years 3 months with sporadic unilateral Wilms' tumor associated with Wiedemann-Beckwith syndrome, but without aniridia, was found to have a t(X;20) in the tumor cells. Karyotypes of peripheral blood of the patient and her parents were normal. This translocation was confined to the tumor and not been previously reported either in nephroblastoma or any other neoplastic processes. Although there is no microscopic deletion on chromosome 11 and catalase activity was not decreased, we cannot rule out the possibility of a point mutation or a submicroscopic deletion.

Beckwith-Wiedemann Syndrome↗

PubMed1990

Tetraploidy in a liveborn infant.

We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, with severely delayed growth and neurodevelopment, and with a cleft lip; these findings have not been described before. This report brings to seven the total number of liveborn infants with a 92,XXYY karyotype.

Abnormalities, Multiple↗

PubMed1989

Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review.

This paper concerns the case of an anencephalus male fetus with partial trisomy 20p product of a maternal translocation 46,XX, t(15;20) (p11.2;p12), ascertained by prenatal diagnosis. A cytogenetic review of previous cases is presented. Several hypotheses are discussed in order to explain the recurrent abortions of the mother and the aetiology of anencephaly in this last pregnancy.

Abortion, Habitual↗

PubMed1989

The 18p- syndrome. Report of five cases.

Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this syndrome: microcephaly, round face, hypertelorism, broad-based nose, "carp-mouth", microrethrognathia, pterygium colli, dysplastic and low set ears, clinodactily, failure to grow, muscular hypotony and mental retardation. Different hypotheses are discussed in order to explain the variable phenotypical expression of the 18 p-syndrome.

Abnormalities, Multiple↗

PubMed1987

[Partial trisomy 18q].

Authors present a new case with partial trisomy for long arms of chromosome 18(q12-qter) resulting from a balanced translocation t(4;18) on her mother. Comparing clinical features of our patient with that of other reported cases with the same trisomic segment, we can deduce that most important characteristics on this syndrome are: psychomotor and grow retardation, congenital heart disease, dolicocephaly, low set and malformed ears, micrognathia, short neck with redundant skin and a longer survival than in total trisomy 18.

Chromosome Banding↗

PubMed1985

[Trisomy 5p: a report of 2 cases].

Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet.

Abnormalities, Multiple↗

PubMed1985

Complete trisomy 9. Two additional cases.

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.

Abnormalities, Multiple↗

PubMed1979

An azoospermic male with a Y/autosome translocation.

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.

Adult↗

PubMed1979

Partial trisomy 14q.

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.

Abnormalities, Multiple↗

PubMed1979

Familial translocation t(10;21)(q22;q22).

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.

Abnormalities, Multiple↗

PubMed1977

[18 short arm deletion. Report of one case (author's transl)].

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.

Abnormalities, Multiple↗

PubMedDate not supplied

[Multiple mosaicism in a patient with gonadal dysgenesis (author's transl)].

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.

Adolescent↗

PubMedDate not supplied

[Down's syndrome with G/G "tandem" translocation (author's transl)].

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.

Chromosome Aberrations↗

PubMedDate not supplied

[Klinefelter's syndrome with 48,XXYY (author's transl)].

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.

Child↗