Clinical features associated with maternal uniparental disomy for chromosome 6

Table 1 Overview on the upd [6]mat patients reported in the literature

Ref.	Sex	Placenta	Birth at	IUGR	Reported Hetero-/Isodisomy	Failure to thrive	Monogenic mutation
[7]	M	NR	At term	Yes	Isodisomy	Yes	——
[8]	F	Normal	At term	Yes	Isodisomy	NR	CYP21
[9]	M	Normal	23w	No	Heterodisomy	NR	——
[10]	M	NR	36w	Yes	Isodisomy	Yes	CYP21
[11]	M	NR	At term	No	Isodisomy	Yes	MOCS1
[12]	M	NR	At term	No	Heterodisomy	NR	——
[13]	M	NR	36w	Yes	Hetero-/Isodisomy	Yes	CUL7
[14]	F	Small	35w	Yes	Isodisomy	Yes	——
[4]	F	NR	34w	Yes	Heterodisomy	Yes	——
[15]	NR	NR	NR	Yes	Isodisomy	NR	TULP1
[16]	F	NR	29w	Yes	Isodisomy	No	——
[17]	M	Placental dysfunction	28w	Yes	Isodisomy	Yes	——
[19]	F	NR	34w	Yes	Heterodisomy	NR	——
[19]	F	NR	32w	Yes	Heterodisomy	NR	——
[18]	F	Placental dysfunction	27 + 6w	Yes	Hetero-/Isodisomy	Yes	——
[18]	M	NR	30w	Yes	Hetero-/Isodisomy	NR	CYP21
[20]	F	NR	32w	Yes	Isodisomy	Yes	——
[21]	NR	NR	At term	Yes	Isodisomy	NR	TULP1
[22]	M	NR	At term	Yes	Isodisomy	NR	IFNGR1
Case1	M	NR	32w	Yes	Hetero-/Isodisomy	Yes	——
Case2	F	NR	36w	Yes	Isodisomy	Yes	SCUBE3

NR, not reported; w, week
Hetero-/Isodisomy: this discrimination only refers to the regions which have been analysed

ISSN: 1755-8166