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

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

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