Figure 1.
The male proband, A and B at age of 4 years and 6 months; C at age of 11 years and 9 months, showing microcephaly, micrognathia and hypertelorism, external canthus upslope, esostasis, plagiocephaly, short philtrum, large nasal bridge, and low-set ears.
Figure 2.
III 1, III 3, III 5 and III 8 all had identical 5p deletion. Prenatal diagnosis was performed on III 5, III 6 and III 8.□: normal male; ○: normal female; ⊙: carrier of ins(11;5); △: spontaneous abortion; ▴: affected and elected abortion; p↗: proband. “I” indicates the maternal grandparents of probands, and “II” indicates the parents of probands”.
Table 1.
Microsatellite markers with corresponding genome position and analysis results of 5p- case.
Table 2.
FISH results using BAC clones.
Figure 3.
Partial karyotypes of the proband III 1(A) showing del(5)(p13.3p15.3); the mother II 2 (B) showing apparently ins(11;5)(q23;p14.1p15.3),inv(7)(p22q32); ins(21) was cryptic cytogenetically, and sister III 6 (C) showing ins(11;5)(q23;p14.1p15.3) only.
Figure 4.
III 1 and III 8 showed an identical deletion of D5S676–D5S2061 region. III 6 inherited an identical haplotype associated with the insertion ins(11;5)from the mother.
Figure 5.
Array CGH plots to show copy number deletions on 5p observed in the male proband III 1 (A), showing a large interstitial deletion arr5p15.33p15.3(4200304–30493484)x1, and, in the normal sister III 6 (B), showing three smaller size interstitial deletions, arr5p15.33p15.31(4200304–7081712)x1,5p14.2(23642864–24156987)x1, 5p14.1p13.3(27332938–30493484)x1 with 2.89 Mb, 0.56 Mb and 3.21 Mb, respectively.
All deleted segments are shaded in pink with log R ratio at ∼negative 1.0.
Figure 6.
A, B showing the deletion examples of two BACs (RP11-59C22 and RP11-318A6) in male proband; C, D showing the deletion examples of two BACs (RP11-473F9 and RP11-428C17) in the normal sister; E, F showing one larger signal and two smaller signals of RP11-125A21 and RP11-100I1 on the normal chromosome 5, der(11) and the der(21) in the mother.
Figure 7.
Schematic chromosome with ideogram of the maternal CCRs, illustrating the balanced rearrangements in the mother, and the terminal deletion of 5p in the male proband and as well as the apparently balanced rearrangements in the phenotypically normal sister.
The average chromosome band resolution is ∼550.