Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14

1988 ◽  
Vol 8 (9) ◽  
pp. 677-682 ◽  
Author(s):  
Sau W. Cheung ◽  
Paula L. Kolacki ◽  
Michael S. Watson ◽  
James P. Crane
Keyword(s):  
Prenatal Diagnosis ◽  
Cytogenetic Analysis ◽  
Fetal Pathology ◽  
Mosaic Trisomy

Prenatal diagnosis, fetal pathology and cytogenetic analysis of A 46,XX/47,XX, + 15 mosaic

1983 ◽  
Vol 3 (1) ◽  
pp. 75-79 ◽  
Author(s):  
G. Gimelli ◽  
Cristina Cuoco ◽  
E. Porro ◽  
Helga Rehder ◽  
M. Fraccaro
Keyword(s):  
Prenatal Diagnosis ◽  
Cytogenetic Analysis ◽  
Fetal Pathology

scholarly journals Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

2010 ◽  
Vol 49 (3) ◽  
pp. 333-340 ◽  
Author(s):  
Chih-Ping Chen ◽  
Yi-Ning Su ◽  
Schu-Rern Chern ◽  
Yuh-Ming Hwu ◽  
Shuan-Pei Lin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Genetic ◽  
Genetic Analyses ◽  
Trisomy 7 ◽  
Mosaic Trisomy

Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells

1998 ◽  
Vol 18 (7) ◽  
pp. 737-741 ◽  
Author(s):  
A. L. Webb ◽  
J. Wolstenholme ◽  
J. Evans ◽  
S. Macphail ◽  
J. Goodship
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 8 ◽  
Mosaic Trisomy

scholarly journals Mosaic trisomy 17 at amniocentesis: Prenatal diagnosis, molecular genetic analysis, and literature review

2016 ◽  
Vol 55 (5) ◽  
pp. 712-717 ◽  
Author(s):  
Chih-Ping Chen ◽  
Liang-Kai Wang ◽  
Schu-Rern Chern ◽  
Yen-Ni Chen ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Mosaic Trisomy

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

2019 ◽  
Vol 157 (3) ◽  
pp. 153-157 ◽  
Author(s):  
Yanca Gasparini ◽  
Marília M. Montenegro ◽  
Gil M. Novo-Filho ◽  
José R.M. Ceroni ◽  
Rachel S. Honjo ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Cytogenetic Analysis ◽  
Gene Dosage ◽  
Skin Pigmentation ◽  
Facial Asymmetry ◽  
Fibroblast Cell ◽  
Relevant Information ◽  
Gene Dosage Effects ◽  
Trisomy 12 ◽  
Mosaic Trisomy

Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper- and hypopigmented regions identified a 47,XX,+12/46,XX karyotype. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation.

scholarly journals Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review

2019 ◽  
Vol 58 (5) ◽  
pp. 692-697
Author(s):  
Chih-Ping Chen ◽  
Ming-Chao Huang ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Mosaic Trisomy
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