Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.
This report describes a case of mosaic Down syndrome due to an unusual karyotype in a patient conceived by assisted reproductive techniques and cryopreservation. The chromosomal complement consists of two different cell lines, one predominantly trisomic with a derivative chromosome due to a Robertsonian translocation (21;21) and another carrying a ring chromosome 21. The present work analyses the different mechanisms that could have led to mosaicism.
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain. rquiroga21@yahoo.es
R
R
Quiroga
M
M
Roselló
F
F
Martinez
I
I
Ferrer-Bolufer
S
S
Monfort
S
S
Oltra
M C
MC
Hernandez
C
C
Orellana
D002891:Chromosomes, Human, Pair 21; D015925:Cryopreservation; D004314:Down Syndrome / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D004622:Embryo, Mammalian; D005306:Fertilization / Q000502:physiology; D005307:Fertilization in Vitro / Q000009:adverse effects; D006801:Humans; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes; D014178:Translocation, Genetic / Q000235:genetics