Three cases of mosaicism for balanced reciprocal translocations

B Leegte, B Sikkema‐Raddatz… - American journal of …, 1998 - Wiley Online Library
… 25 metaphases (32%) bearing the same translocation (Fig. 1). In a … translocation mosaicism
was confirmed (3 of 14 cells examined had the translocation). No phenotypic abnormalities

Balanced reciprocal translocation mosaicism: how frequent?

KE Opheim, A Brittingham, D Chapman… - American journal of …, 1995 - Wiley Online Library
… of balanced reciprocal translocation (BRT) mosaicism. The fre… on the basis of abnormal
phenotype. The frequencies in the … tion were referred because of a phenotypic abnormality

Unusual chromosomal mosaicism as a cause of mental retardation and congenital malformations in a familial reciprocal translocation carrier, t (17; 22)(q24. 2; q11. 23 …

A Dufke, H Mayrhofer, H Enders, P Kaiser… - Cytogenetics and cell …, 2001 - karger.com
mosaicism as a possible cause for MR/CM in patients who apparently carry a balanced familial
reciprocal translocation… We consider this finding sufficient to explain the phenotype in our …

Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): reproductive implications, frequency and mechanism

M Garzo, I Catusi, DM Colombo, L De Grada… - European Journal of …, 2020 - Elsevier
… Out of the reported 25 cases six showed an abnormal phenotype likely due to gene … presence
of a maternal germline mosaicism, since the translocation was transmitted to the offspring …

Trisomy 15 mosaicism owing to familial reciprocal translocation t (1; 15): implication for prenatal diagnosis

P Prontera, B Buldrini, V Aiello… - … in Affiliation With the …, 2006 - Wiley Online Library
… for a clear karyotype–phenotype correlation in an … Unusual chromosomal mosaicism as a
cause of mental retardation and congenital malformations in a familial reciprocal translocation

Mosaicism and clinical genetics

NB Spinner, LK Conlin - … Journal of Medical Genetics Part C …, 2014 - Wiley Online Library
… clinical consequences of mosaicism, as the patterns and distribution of abnormal cells can …
the mosaicism is not visible as a distinct phenotype, but rather modifies an existing phenotype

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

ACJ Gijsbers, JG Dauwerse, CAJ Bosch… - European journal of …, 2011 - Elsevier
… , which tissue is abnormal and how much of a tissue is affected [2]. Abnormality involving
only a part of the gonad (gonadal mosaicism) is not associated with an abnormal phenotype of …

Nonmosaic balanced homologous translocations of major clinical significance: some may be mosaic

NV Kovaleva - American Journal of Medical Genetics Part A, 2007 - Wiley Online Library
mosaicism for a normal line. Since low level mosaicism for a normal line in a translocation
… , they have virtually no chance of having normal offspring since they produce only abnormal

Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error

S Zeng, SR Patil, J Yankowitz - American Journal of Medical …, 2003 - Wiley Online Library
… we sought to determine if the mosaicism was a result of chimera … We present an unusual
case of mosaic translocation trisomy … These cases showed large phenotypic variation due to the …

[PDF][PDF] First cryptic balanced reciprocal translocation mosaicism and familial transmission

C Dupont, A Delahaye, L Burglen, AC Tabet… - American Journal of …, 2008 - academia.edu
Abnormal phenotype in a child with a ‘‘balanced’’ translocation 8/12 in mosaic state. Am
J … Translocation mosaicism in a woman having multiple miscarriages. Am J Med Genet 22:615…