Case Reports in Genetics

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 cases^a

[9] 2 cases^b

[6]

[10]

[2]

[19] 2 cases

[5]

[8]

[11]

[4]

[20]

Our study 4 cases

Microduplication 3q29 [21–23, 26] 13 cases

3q duplicated region origin

q26.2-qter
mat/pat
familial

q25–q29
de novo

q23–q27
de novo

q21–q26^c
de novo

q25–q28
de novo

q25.1–q26.2
mat

q26.3-qter
de novo

q24–q26.31
de novo

q27-qter^d
de novo

q22.2–q29
de novo

q24–q28^e
pat

q26.2-qter
mat
familial

Frequency of clinical manifestations

q29

Cytogenetic analysis

GTG/FISH/CGH^f

GTG

GTG/QFQ/RFA

GTG/SB

GTG/FISH/CGH

GTG/CGH
FISH/SKY

GTG/QFQ/RBA/FISH

GTG/FISH
SNPa

GTG/FISH/SKY/SNPa

GTG/NOR/FISH

SNPa/aCGH/GTG

Oldest age recorded gender

9 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 retardation

4/4

2/2

1/1

2/2

1/1

4/4

20/20
100%

11/13
85%

Growth retardation

4/4

2/2

1/1

0/2

1/1

0/1

1/1

0/4

12/19
63%

Facial features

Microcephaly

4/4

2/2

1/1

0/1

2/2

0/1

1/1

0/1

1/1

0/4

12/20
60%

6/12^f
50%

Low hairline

1/3

2/2

1/1

0/1

4/4

10/17
58%

1/13
8%

Hirsutism

4/4

2/2

1/1

0/1

1/1

0/2

0/1

1/1

0/1

4/4

13/20
65%

0/13
0%

Synophrys

4/4

2/2

1/1

0/1

1/1

0/2

0/1

1/1

0/1

4/4

13/20
65%

0/13
0%

Bushy eyebrows

4/4

2/2

1/1

0/1

1/1

0/2

1/1

0/1

1/1

0/1

4/4

14/20
70%

0/13
0%

Long eyelashes

4/4

2/2

1/1

0/1

1/1

0/2

1/1

0/1

1/1

0/1

3/4

13/20
65%

0/13
0%

Wide nasal bridge

4/4

0/2

1/1

1/2

1/1

4/4

18/19
94%

4/13
31%

Anteverted nostrils

4/4

2/2

1/1

2/2

1/1

0/1

1/1

4/4

18/19
94%

0/13
0%

Downturned corners of the mouth

4/4

1/2

1/1

1/2

1/1

4/4

17/19
89%

3/13
23%

High/cleft palate

0/4

0/2

1/1

0/2

0/1

1/1

0/4

4/20
20%

4/13
31%

Micro/ retrognathia

3/4

2/2

0/1

1/1

0/2

1/1

0/1

1/1

0/1

0/4

10/20
50%

0/13
0%

Dysmorphic ears

3/4

0/2

0/1

1/1

0/2

1/1

0/1

1/1

4/4

11/19
57%

0/13
0%

Limb abnormalities

Brachydactyly

4/4

2/2

0/1

1/1

2/2

1/1

0/1

1/4

1420
70%

0/13
0%

Clinodactyly

3/4

2/2

1/1

2/2

0/1

1/1

0/1

4/4

14/20
70%

0/13
0%

Other limbs abnormalities

0/4

0/2

0/1

2/2

1/1

0/4

7/20
35%

4/13
31%

Other

Short neck

3/4

2/2

0/1

1/1

2/2

1/1

0/1

1/1

0/1

4/4

15/19
78%

0/13
0%

Cardiopathy

2/4

1/1

2/2

1/1

0/1

1/1

1/4

11/19
57%

4/13
31%

Seizures disorders

0/4

2/2

0/2

0/1

1/1

0/1

1/4

4/16
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.