Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR
Rebeca Valeroa, Gemma Marfanya, Rosario Gil-Bensob, Maria de los Angeles Ibáñezc, Isidora López-Pajaresd, Félix Prietoe, Gaspar Rul.lanf, Enric Sarretg, Roser Gonzàlez-Duartea
a Departament de
Genètica, Facultat de Biologia, Avda Diagonal 645, 08028 Barcelona,
Spain, b Departamento Patologia, Facultat de Medicina i
Odontologia, Avda Blasco Ibáñez 17, 46010 Valencia, Spain, c Fundación Jiménez Diaz, Clínica
Nuestra Señora de la Concepción, Avda Reyes Católicos 2, Ciudad
Universitaria, 28040 Madrid, Spain, d Servicio
de Genética, Hospital de la Paz, Paseo de la Castellana 261, 28046 Madrid, Spain, e Hospital
la Fe, Unidad de Genética y Diagnóstico Prenatal, Avda de Campanar
21, 46009 Valencia, Spain, f ASNIMO (Asociación Síndrome de Down de
Baleares), Km 7.5 Carretera de Palma-Alcudia, 07141 Marratxi
(Baleares), Spain, g Hospital de
la Vall d'Hebró, Passeig Vall d'Hebró 119-129, 08035 Barcelona,
Spain
Correspondence to: Dr Gonzàlez-Duarte.
Revised version received 22 April 1999;
Accepted for publication 5 May
1999
Although trisomy of chromosome 21 is the most prevalent human
genetic disorder, data from partial 21 aneuploidies are very scanty.
Eight different partial aneuploidies for chromosome 21 were
characterised by fluorescence quantitative PCR. Allelic dosage analysis
was performed for each patient using 25 CHLC STRs covering the entire q
arm. The length of the corresponding trisomies and monosomies was
ascertained for five partial trisomics and three partial monosomics.
All trisomic patients carried unbalanced translocations involving
chromosome 21, whereas one of the monosomic patients bore a ring
chromosome 21 and another showed an interstitial deletion of chromosome
21. The chromosomal breakpoints of two partial trisomy patients could
be clearly delimited. However, the other three trisomies involved most
of the 21 q arm as three allelic doses were detected for each marker.
Although these latter patients do not show all the features of Down
syndrome, genotype/phenotype correlations agree with previously
reported data. The chromosomal breakpoints observed in two partially
monosomic patients helped further to define the region involved in
different phenotypic features associated with chromosome 21 monosomy.
Telomeric material loss was also detected in a patient bearing a ring
21 chromosome. The parental origin of the aneuploidy was assigned for
each case, which allowed us to conclude that two of the monosomic cases
originated from de novo chromosomal rearrangements. There was no
correlation with parental sex in contrast to trisomic patients
originating from meiotic non-disjunction.
Keywords: Down syndrome; partial trisomy; partial monosomy; chromosome 21
© 1999 by J Med Genet
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