Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman

Figures & data

Figure 1 The chromosome karyotype of the patient. (a) 46, XX, del(16)(q22), black arrow points the deletion at 16q22; (b) 46, XX, fra(16)(q22), black arrow points the fragile site at 16q22; (c) 46, XX, fra(16)tr(16)(q22), black arrow points the duplication at 16q22; (d) 46, XX.

Table 1 The Percentages of Different Cell Lines in the Mosaic Karyotypes of the Patient and Her Mother

	Patient 1st Karyotype (Percentages)	Patient 2nd Karyotype (Percentages)	Mother (Percentages)
46, XX, del(16)(q22)	40 (40%)	26 (26%)	16 (16%)
46, XX, fra(16)(q22)	29 (29%)	24 (24%)	46 (46%)
46, XX, fra(16)tr(16)(q22)	3 (3%)	8 (8%)	6 (6%)
46, XX	28 (28%)	42 (42%)	32 (32%)

Figure 2 The chromosome karyotype of the patient’s mother. (a) 46, XX, del(16)(q22), black arrow points the deletion at 16q22; (b) 46, XX, fra(16)(q22), black arrow points the fragile site at 16q22; (c) 46, XX, fra(16)tr(16)(q22), black arrow points the duplication of 16q22; (d) 46, XX.

Table 2 Frequencies of Sister Chromatid Exchanges in Metaphases of Patient, Patient’s Mother and a Healthy Control

	Gender	Metaphases Count	SCE at 16q^a,b	Rate of SCEs/ Chromosome
Patient	F	30	12	0.11
Mother	F	30	5	0.13
Control	F	30	4	0.11

Notes: ^aThe SCEs were located in a region within the long arm of chromosome 16. ^bIn the metaphases of the two fra(16)(q22) carriers, it was not possible to differentiate between the fragile chromosome 16 and its non-fragile homolog.

Figure 3 The SCE experiments of patient, patient’s mother and a healthy control. (a) A metaphase of the patient’s SCE; (b) A metaphase of the patient’s mother’s SCE; (c) A metaphase of the control’s SCE; (d) The patient’s SCE were located in a region within the long arm of chromosome 16, arrow points the SCE site on 16q; (e) The patient’s mother’s SCE were located in a region within the long arm of chromosome 16, arrow points the SCE site on 16q; (f) The normal control’s SCE were located in a region within the long arm of chromosome 16, arrow points the SCE site on 16q.