Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2559-2563

  Pittalis, Maria Carla ^a   Mattarozzi, Angela ^a   Menozzi, Cristina ^b   Malacarne, Michela ^c   Baccolini, Ilaria ^a   Farina, Antonio ^a   Pompilii, Eva ^a   Magini, Pamela ^a   Percesepe, Antonio ^b  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c GALLIERA HOSPITAL   (Italy)

Author keywords

CVS; Inv del dup; Subtelomeric deletion

Indexed keywords

ADULT; AMNION FLUID ANALYSIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME 11Q; CHROMOSOME 20P; CHROMOSOME 7Q; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CRYPTIC SUBTELOMERIC REARRANGEMENT; ECHOGRAPHY; FEMALE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; HUMAN; KARYOTYPE 46,XY; MESENCHYME; METAPHASE CHROMOSOME; MICROARRAY ANALYSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; STRUCTURAL CHROMOSOME ABERRATION; TROPHOBLAST;

CVS; INV DEL DUP; SUBTELOMERIC DELETION;

ABORTION, INDUCED; ADULT; CHORIONIC VILLI SAMPLING; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; TELOMERE; TRANSLOCATION, GENETIC; YOUNG ADULT;

EID: 84884982979     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36035     Document Type: Article

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