translocation carrier

trans·lo·ca·tion car·ri·er

a person with balanced translocation.

References in periodicals archive ?

In the rare circumstance in which neither one of the parents is a balanced translocation carrier, there are commercially available FISH probes for the 22q11.2 deletion and also for the telomere of 11q which can identify the supernumerary chromosome in the karyotype as being derived from chromosomes 11 and 22.

Sindrome de Emanuel: primer caso reportado en Mexico

A 22/22 translocation carrier with recurrent abortions demonstrated by a Giemsa banding technique.

De novo Balanced Robertsonian Translocation rob(22;22)(q10;q10) in a Woman with Recurrent Pregnancy Loss: A Rare Case

Normal sperm in a 2;2 homologous male translocation carrier. J Assist Reprod Genet 2012;29:665-8.

Reproductive outcomes in men with karyotype abnormalities: case report and review of the literature

This report describes a selection process of embryos originating from a balanced three-way reciprocal translocation carrier using array CGH.

Live birth from a patient with a three-way balanced translocation t(5;8;12)

There is a significant increased risk of giving birth to a child with Trisomy 21 when one parent is a Robertsonian translocation carrier or of reciprocal translocations as they may produce balanced and unbalanced gametes during gametogenesis.

Incidence of down's syndrome with chromosomal pattern in the Eastern India

Pregnancy obtained after PGD was confirmed by prenatal diagnosis and balanced translocation carrier was shown.

PREIMPLANTATION GENETIC DIAGNOSIS FOR T(2;5) (q37.1;q35.1): CASE REPORT

* Parenteral chromosome studies: If translocation is identified to rule out the translocation carrier; since it carries a high recurrence risk for next child and in such case there are possibility of such risk to other family member of parent.

Anaesthetic consideration in patients of Down's syndrome

The balanced chromosomal translocation carriers have increased risk for pregnancy losses or having children with mental or physical abnormalities because of unbalanced segmental chromosomal losses and gains.

UNBALANCED CHROMOSOMAL REARRANGEMENT IN FETUS WITH CONGENITAL ANOMALY: A CASE REPORT

A balanced reciprocal translocation is an exchange of material between two nonhomologous chromosomes, without loss or gain of material and balanced translocation carriers are usually healthy and phenotypically normal.

A Novel t(10; 13) (q24; q14) in a female with recurrent miscarriage

Because translocation carriers are, theoretically, at high risk of transmission of an unbalanced segregant to the blastomere, as many as 10 blastomeres will often be screened until one or two are deemed normal for the FISH probes in question.

PGD can reduce the risk of a child with a specific genetic abnormality carried by one or both parents

Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002; 17 : 3201-7.

Down syndrome like appearance with a novel de novo translocation t(6;21)(q21;q13)

Yet, there is undisputed evidence that the human male significantly affects the health of his children through sperm DNA in paternally mediated Mendelian genetic defects, chromosomal aberrations (e.g., paternal translocation carriers), and aneuploid sperm (associated with 30-50% of Klinefelter, 80% of Turner, 5% of Down, and 100% of extra Y chromosome syndromes) (Blanco et al.

Off to a good start: the influence of pre- and periconceptional exposures, parental fertility, and nutrition on children's health