Constitutive RB1 mutation in a child conceived by in vitrofertilization: implications for genetic counseling

BMC Medical Genetics

Table 1 Genotyping of four quadruplets and father.

Locus	Father	Proband (A)	Sister (B)	Sister (C)	Sister (D)	Deduced maternal alleles
D3S1358	14–18	17–18	14–17	14–17	14–17	17–?
TH01	7–8	7–9	7–9.3	8–9.3	8–9.3	9–9.3
D21S11	28–29	28–31	29–31	28–31	28–31	31 – ?
D18S51	14–15	14–15	14–15	14–15	14–15	14? – or 15?
PENTA E	13–15	13–15	5–13	13–15	13–15	5 – ?
D5S818	12–12	12–13	12–12	12–13	12–13	12–13
D13S317	11–12	9–11	9–12	9–12	9–12	9 – ?
D7S820	11–12	11–12	11–11	11–12	11–12	11–?
D16S539	8–9	8–12	9–12	9–9	9–9	9–12
CSF1PO	10–12	10–11	10–12	10–10	10–10	11–10
PENTA D	2.2–10	10–13	10–13	2.2–13	2.2–13	13 – ?
VWA	16–16	16–16	13–16	13–16	13–16	13–16
D8S1179	11–13	11–13	9–11	13–13	13–13	9–13
TPOX	8–11	8–11	11–11	8–11	8–11	11 – ?
FGA	21–25	21–21	21–21	21–21	21–21	21–?
AMEL	X-Y	X-X	X-X	X-X	X-X

? = unknown allele
Analysis of 16 molecular markers used for genotyping quadruplets and their father. Numbers represent alleles identified with PowerPlex 16 System^®. Maternal alleles were deduced. The Amelogenin marker (AMEL) was used as an X chromosome marker. Genotyping allowed for the diagnosis of zygosity in the quadruplets.

ISSN: 1471-2350