Biomedical subjects

M Tzancheva

Publications and source records attributed to M Tzancheva.

4 recordsLinked to original sources

PubMed1987

Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome.

A four-month-old girl with facial dysmorphism, moderate mental retardation, immune deficiency (decreased IgG and IgA and absence of IgM), centromeric instability of chromosomes 1, 9, 16 and very rarely of chromosome 2, and disposition to formation of multibranched chromosomal figures, is described. The case is the fifth described with such chromosomal and immune abnormalities, which prove the existence of a new syndrome. The authors suggest an autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1983

Partial trisomies 15.

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Chromosomes, Human, 13-15↗

PubMed1981

Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21).

A trisomy of the distal long arm of chromosome 15(q21 leads to qter) resulting in similar phenotypic and developmental abnormalities in two related children (a boy and a girl) is described. The chromosome defect was due to malsegregation of a balanced translocation (5;15)(p14;q21) in one of the parents. It was inherited in four generations and accompanied by recurrent miscarriages. Comparison of these patients with four previously published cases of trisomy 15q dist reveals a pattern of common features including: microdolichocephaly with characteristic strikingly protuberant occiput and predominance of the visceral over the cerebral cranium; peculiar facial dysmorphism--narrow antimongoloid palpebral fissures; large, malformed, low-set ears; micrognathy; long philtrum; short neck; cardiopathy; profound encephalopathy with lack of suck and swallow reflexes; and no growth retardation.

Abnormalities, Multiple↗

PubMed1978

A case of trisomy 22 with a probable Robertsonian translocation 21/22.

A 2-year-old girl with a prabable trisomy-22 translocation is described. The principal clinical symptoms described by the authors who have reported cases with proved trisomy 22 are presented. A probable 46,XX,-21,+t(21q;22q) karyotype was established in the patient. The proband's clinical picture is compared with other trisomy 22 cases described in the literature. The incidence of this trisomy among the human population is discussed.

Child, Preschool↗