Case Reports in Genetics / 2013 / Article / Tab 1

Case Report

Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome

Table 1


[17] 4 casesa[9] 2 casesb[6][10][2][19] 2 cases[5][8][11][4][20]Our study 4 casesMicroduplication 3q29 [2123, 26] 13 cases

3q duplicated region originq26.2-qter
mat/pat
familial
q25–q29
de novo
q23–q27
de novo
q21–q26c  
de novo
q25–q28
de novo
q25.1–q26.2
mat
q26.3-qter
de novo
q24–q26.31
de novo
q27-qterd  
de novo
q22.2–q29
de novo
q24–q28e  
pat
q26.2-qter
mat
familial
Frequency of clinical manifestationsq29
Cytogenetic analysisGTG/FISH/CGHfGTGGTGGTG/QFQ/RFAGTG/SBGTG/FISH/CGHGTG/CGH
FISH/SKY
GTG/QFQ/RBA/FISH GTG/FISH
SNPa
GTG/FISH
SNPa
GTG/FISH/SKY/SNPaGTG/NOR/FISH SNPa/aCGH/GTG
Oldest age recorded gender9 m–14 y
3 F/1 M
9 y 2 m/8 y
F/M
26 m
F
9 m
M
11 m
F
10 y 6 m/ND
M/F
11 m
M
15 m
M
4 y 8 m
F
42 m
M
32 m
M
3 y 3 m–35 y
3 F/2 M
6 m–56 y
Developmental delay/mental retardation4/42/21/11/11/12/21/11/11/11/11/14/420/20
100%
11/13
85%
Growth retardation4/42/21/11/1ND0/21/11/10/11/11/10/412/19
63%
ND
Facial features
Microcephaly4/42/21/10/10/12/20/11/10/11/11/10/412/20
60%
6/12f
50%
Low hairline1/32/21/11/1NDND1/1ND0/10/10/14/410/17
58%
1/13
8%
Hirsutism4/42/21/10/11/10/20/10/10/11/10/14/413/20
65%
0/13
0%
Synophrys4/42/21/10/11/10/20/10/10/11/10/14/413/20
65%
0/13
0%
Bushy eyebrows4/42/21/10/11/10/21/10/10/11/10/14/414/20
70%
0/13
0%
Long eyelashes4/42/21/10/11/10/21/10/10/11/10/13/413/20
65%
0/13
0%
Wide nasal bridge4/40/21/11/11/11/21/11/11/11/11/14/418/19
94%
4/13
31%
Anteverted nostrils4/42/21/11/1ND2/21/11/10/11/11/14/418/19
94%
0/13
0%
Downturned corners of the mouth4/41/21/11/1ND1/21/11/11/11/11/14/417/19
89%
3/13
23%
High/cleft palate0/40/21/11/11/10/20/10/10/10/11/10/44/20
20%
4/13
31%
Micro/ retrognathia3/42/20/11/11/10/21/11/10/11/10/10/4 10/20
50%
0/13
0%
Dysmorphic ears3/40/20/11/1ND0/21/11/10/10/11/14/4 11/19
57%
0/13
0%
Limb abnormalities
Brachydactyly4/42/20/10/11/12/21/11/11/11/10/11/4 1420
70%
0/13
0%
Clinodactyly3/42/21/11/11/12/20/10/10/11/10/14/4 14/20
70%
0/13
0%
Other limbs abnormalities0/40/20/10/10/12/21/11/11/11/11/10/4 7/20
35%
4/13
31%
Other
Short neck3/42/20/11/1ND2/21/11/10/11/10/14/4 15/19
78%
0/13
0%
Cardiopathy2/4ND1/11/11/12/21/11/10/10/11/11/4 11/19
57%
4/13
31%
Seizures disorders0/42/2NDNDND0/20/1ND0/11/10/11/44/16
25%
0/13
0%

F: female; M: male; y: years; m: months; ND: no determined; mat: maternal; pat: paternal; GTG: G-bands by trypsin using Giemsa; RBA: R-bands by BrdU using acridine orange; RFA: R-bands by fluorescence using acridine orange; QFQ: Q-bands by fluorescence using quinacrine; SB: southern blot; FISH: fluorescence in situ hybridization; CGH: comparative genomic hybridization on metaphase; aCGH: array comparative genomic hybridization; SNPa: single nucleotide polymorphism array. aOne case clinically affected, died prior to chromosome analysis, initial karyotype without banding. bOne case had also a monosomy of 3p27-pter. cProbably with del(3)(q27q29); dthe karyotype was 46,XX,der(4)t(3;4)(q27;p16); the 4p deletion is of less than 500 kb, so it is considered a 3q27-qter pure trisomy. eKaryotype: 46,XYins(6;3)(q21;q24q28). fThe karyotype was done by Rizzu and Baldini [19]; the final karyotype was 46,XY,der(22)t(3;22)(q26;p11). f1 case reported by Balif et al. [21] had macrocephaly.

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