46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.
We describe a female child with complex cytogenetic anomalies consisting in partial trisomy of the short arm of chromosome 10, terminal deletion of the long arm of chromosome 2 and--at the same time--a mosaicism for X monosomy. To our knowledge, this is the first case reported in which 10p trisomy is associated to a 2qter deletion. Due to the scarcity of cases reported with pure trisomy, it has not been possible to define the 10p+ syndrome precisely yet. Comparison of our proband's phenotype to both the 2q37 deletion and 10p trisomy showed more features described in 2q37- subjects than in 10p+ ones. We also discuss the difficulties of genetic counseling in children with complex aberrations.
Grammatico
P
P
Cattedra di Genetica Medica, Università La Sapienza, Roma, Italia.
Majore
S
S
Marrocco
G
G
Poscente
M
M
Mordenti
C
C
Grammatico
B
B
Del Porto
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009006:Monosomy; D010641:Phenotype; D014314:Trisomy; D014960:X Chromosome