Heteromorphism 18ph+ : with or without reproductive consequences?
Heteromorphism or chromosomal variants are usually attributed to structural variations in constitutive heterochromatin. In the case of chromosome 18, 25 cases of 18ph+ have been reported to date. Using the Primed In Situ Labelling technique (PRINS) to study 2 new cases of 18ph+, we have been able to confirm their molecular nature and assuming a mechanism of formation. Although such chromosomal variants are usually thought to have no adverse clinical consequence, a review of the literature shows that many cases were diagnosed because of recurrent abortion, malformed or mentally retarded children suggesting the possible relationship between 18ph+ and such clinical outcomes.
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Service d'Histologie-Embryologie-Cytogénétique et Biologie Cellulaire, Hôpital Bichat-Cl. Bernard, 46, Rue Henri Huchard, 75018, Paris, France. anne-claude.tabet@worldonline.fr
Dupont
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JM
Lebbar
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A
Couturier-Turpin
M H
MH
Feldmann
G
G
Rabineau
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D
D000653:Amniotic Fluid / Q000378:metabolism; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D018191:Lymphangioma, Cystic / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis