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 …
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 …
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 …
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 …
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 …
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…
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 …
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 …
… , 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 …
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…
J … Translocation mosaicism in a woman having multiple miscarriages. Am J Med Genet 22:615…
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