A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature

Table 1 Clinical features and molecular breakpoints of patients with 15q25.2 microdeletions

	Burgess Pt3 [6,7,8]	Palumbo Pt1 [16]	Wagenstaller [4]	Hyon Pt1 [9]	Hyon Pt2 [9]	Hyon Pt3 [9]	McGuire Pt87 [10]	Present case
Age (years)	5-month old	9	11	NR	NR	NR	NR	14
Gender	Female	Female	Female	Female	Female	Female	Female	Female
Height (cm) /weight (kg)	NR	120 /22	NR	168/70	156/48	156/59	NR	143.9/29.5
First menses	NA	NR	NR	Primary amenorrhea	19	Primary amenorrhea	Primary amenorrhea	Primary amenorrhea
Size of the ovary (right/left), mm	NA	NR	NR	Not found	19 × 12/ 20× 11	25 × 8/ 26 × 9	NR	Not found
FSH (IU/L)/ LH (IU/L) / E2(pmol/L)	NR	NR	NR	33/29/39	44/19/90	65/48/100	NR	10.4/45.5/18.3
Intellectual disability or developmental delay	Mild delay	moderate to severe cognitive delay	Mild mental and psychomotor retardation	Behavioral disorders, progressive intellectual deficiency	None	None	NR	None
Microdeletion in 15q25.2	2.5 Mb	1.6 Mb	~ 1.4 Mb/~ 2.2 Mb	2.5 Mb	2.5 Mb	1.6 Mb	1.67 Mb	0.447 Mb
Inheritance	De novo	De novo	De novo	De novo	NR	NR	NR	De novo

FSH Follicle stimulating hormone, LH Luteinizing hormone, E2 Estradiol, NR Not recorded, NA Not applicable, UNK Unknown, N Normal

ISSN: 1755-8794