ChromosOmics - Database

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                                                  -  CHROMOSOME #14 -                                                 
UNCLEAR
 
Cases without clinical findings
 Similar imbalances – no sSMC
Cases with clinical findings
 		Similar imbalances – no sSMC
Cases without clear clinical correlation
 Cases with discontinous sSMC
Cases with complex sSMC
 Cases with UPD and sSMC
Cases with neocentromeres
 Similar imbalances - sSMC
Tumor
 DISCLAIMER
In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!


UPD (uniparental disomy) cases: UPD(14)mat UPD(14)pat UPD(14)mat or pat

Cases with unclear clinical correlation (U)

case no.
 		gender/
age at diagnosis
studied
material
 		de novo/
inherited
 		GTG-banding result
grade of mosaicism
 		final result of the sSMC
 		test
methods
 		clinical symptoms
 		Reference
14-
U-
1		 male/
prenatal		 AF de novo 47,XY,+mar[5]/
46,XY[5]		 inv dup(14)(q11) M-FISH; cenM AMA; white spot in left heart chamber, no further information available
{2} case 4
{4} case 4;
{92} case 14-U-1
14-
U-
1a		 female/
prenatal		 AF de novo 47,XY,+mar[9]/
46,XY[5]		 inv dup(14)(q11.1) cenM; subcenM AMA; white spot in left heart chamber, no further information available {2} case 1
{4} case 1
{92} case 14-U-1a
14-
U-
1b		 female/
prenatal		 AF de novo (?) 47,XX,t(9;14)(q22.1~q22.2;q21),
+mar[100%]		 inv dup(14)(q11.1) cenM; subcenM AMA normal(?) child born {92} case 14-U-1b
14-
U-
1c		 n.a./
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) ceps; subcenM AMA; no further info available {92} case 14-U-1c
14-
U-
1d		 female/
prenatal		 AF n.a. 47,XX,+mar[28]/
46,XX[34]		 inv dup(14)(q11.1) cenM; subcenM; UPD-test AMA? - no info available {92} case 14-U-1d
14-
U-
1e		 male/
prenatal		 AF n.a. 47,XY,+mar[42]/
46,XY[34]		 inv dup(14)(q11.1) cenM; subcenM; UPD-test AMA? - no info available {92} case 14-U-1e
14-
U-
1f		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cenM; subcenM no info available {92} case 14-U-1f
14-
U-
2		 female/
1y		 PBL de novo 47,XY,+mar[15] min(14)(:p12→q11.1:) M-FISH;
cenM
subcenM; UPD-test		 see below {92} case 14-U-2
possible problems perinatally; dystrophy; length and weight at 1y <3. percentile plus microcephalus; the latter not present at birth; extreme feeding problems
14-
U-
2a		 male/
postnatal		 PBL n.a.
47,XY,+mar[50%]/
46,XY[50%]		 min(14)(:p12→q11.1:) cep probes, subcenM n.a. {92} case 14-U-2a
14-
U-
2b		 see -0Xf-14-1 {60} case P-7
{61}
14-
U-
2c		 male/
1y		 PBL n.a. 47,XY,+mar[44]/
46,XY[6]		 min(14)(pter→q11.1:) cenM; subcenM abnormal {92} case 14-U-2c
14-
U-
2d		 see 14-O-q11.1/4-2
14-
U-
2e		 male/
prenatal		 AF n.a. 47,XY,+mar[7]/
46,XY[17]
in interphase sSMC in 70%		 min(14)(p11.1→q11.1:) cenM; subcenM AMA; no further info available {92} case 14-U-2e
14-
U-
3		 male/
prenatal		 AF de novo 47,XY,+mar[50%]/
46,XY[50%]		 min(14)(:p11.1→q11.1:)[7]/
inv dup(14)(:p11.1→q11.1:
:q11.1→p11.1:)[4]		 cenM; subcenM; UPD-test AMA; no further info available {92} case 14-U-3
14-
U-
4
n.a./
n.a.		 n.a. n.a. 47,+mar[?] ?min(14) n.a. phenotype unknown {19} case 25
{46} case 31
14-
U-
5		 see +0Xf-14-1 {26}
14-
U-
6		 male/
prenatal		 AF
cell line at ECACC DD0357		 de novo 47,XY,+mar[60%]/
46,XY[40%]		 mar(14) all centromeric probes; UPD-test TOP; phenotype unknown {5} case 11
{16} case 8

14-
U-
7
n.a./
n.a.		 n.a. n.a. 47,+mar[?] mar(14) n.a. n.a. {37} 1 case
14-
U-
8
to 10		 2x female/ 1x male/
prenatal		 AF de novo 47,+mar[?%]/
46[?%]		 mar(14) cep probes TOP, normal at autopsy {20} cases 11, 13, 15
14-
U-
11		 see 14-Uc-3
14-
U-
12		 see 14-Uc-4
14-
U-
13		 see 14-Uu-1
14-
U-
14		 see 14-Uu-2
14-
U-
15		 see 14-Uu-3
14-
U-
16		 see 14-Uu-4
14-
U-
17		 see 14-Uc-5
14-
U-
17a		 see 14-Uc-6
14-
U-
18		 see 14-Uc-7
14-
U-
19		 male/
n.a.		 PBL/ EBV line n.a. 47,XY,+mar[27]/
46,XY[3]		 mar(14)(pterq23.33) aCGH n.a. {65; 73};
{92} case 14-U-19
14-
U-
20		 female/
12y		 PBL n.a. 47,XX,+mar[100%] min(14)(pter→q11.1:) acrocenM, subcenM dwarphism; potentially mat UPD 14, test not wanted by parents {92} case 14-U-20
14-
U-
21		 see 14-Uu-5

14-
U-
22		 female/
2y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM clinically abnormal {92} case 14-U-22
14-
U-
23
see 14-Uc-8
14-
U-
24		 male/
3y		 PBL de novo 47,XY,+mar[10%]/
46,XY[90%]
min(14)(pter→q11.2:)		 acrocenM, subcenM short stature, microcephaly, hypoplastic alae nasi, midface hypoplasia, cleft and lip palate, clubfeet {92} case 14-U-24
14-
U-
25		 male/
14y		 PBL n.a. 47,XY,+mar[17]/
46,XY[3]		 inv dup(14)(q11.1) acrocenM, subcenM see below {92} case 14-U-25
short stature, DD, primary hypogonadism, congenital malformation of pancreas, secondary cardiomyopathy, bilateral myopia, retinal microangiopathy (bilateral), exophtalmos, facial dysmorphisms, abnormal dental development, prognathia, testicular hypoplasia.
14-
U-
26		 see 14-Uc-9
14-
U-
27		 see 14-Uc-10
14-
U-
28		 see 14-Uc-11
14-
U-
29		 female/
?postnatal		 ?PBL n.a. 47,XX,+mar[19]/
46,XX[9]		 min(14)(pter→q11.1:) acrocenM, subcenM n.a. {92} case 14-U-29
14-
U-
30		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM minor sonographic signs {92} case 14-U-30
14-
U-
31		 female/
postnatal		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM n.a. {92} case 14-U-31
14-
U-
32		 female/
6y		 PBL de novo 47,XX,+mar[100%]
sSMC derivative of maternal chromosome 14		 inv dup(14)(q13.2)
size 14.6 MB		 aCGH see below
{62}
multiple malformations including bilateral cleft lip and palate, coloboma, craniosynostosis, severe mental retardation, seizures and gastrointestAinal dysfunction. Also mitochondrial defect with reduced function of complex I and III of the respiratory chain.
14-
U-
33		 see 14-Uc-12
14-
U-
34		 see 14-Uc-13
14-
U-
35		 see 14-Uc-14
14-
U-
36		 male/
prenatal		 AF de novo 47,XY,+mar[11]/
46,XY[4]		 min(14)(pter→q11.1:) or min(14)(:p11.1→q11.1:) acrocenM, subcenM AMA; no further info available {92} case 14-U-36
14-
U-
37		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM child with multiple malformations and TOP {92} case 14-U-37
14-
U-
38		 see 14-Uc-15
14-
U-
39		 see 14-Uu-6
14-
U-
40		 male/
prenatal
AF		 n.a. 47,XY,+mar[100%] inv dup(14)(q13.2) acrocenM, subcenM, MCB AMA; no further info available {92} case 14-U-40
14-
U-
41		 male/
prenatal
AF		 n.a. 47,XY,+mar[11]/
46,XY[19]		 min(14)(:p11.1→q11.1:) cenM, subcenM AMA; no further info available {92} case 14-U-41
14-
U-
42		 male/
prenatal
AF		 n.a. 47,XY,+mar[14]/
46,XY[26]		 mar(14) cep probes and M-FISH n.a. {82} case 6
14-
U-
43		 male/
7y		 PBL n.a. 47,XY,+mar[8]/
46,XY[202]		 inv dup(14)(q11.1) acrocenM, subcenM MR, DD {92} case 14-U-43
14-
U-
44		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM n.a. {92} case 14-U-44
14-
U-
45		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM twin pregnancy {92} case 14-U-45
14-
U-
46		 female/
prenatal		 CH n.a. 47,XX,+mar[40%]/
46,XX[60%]		 inv dup(14)(q11.1) ceps n.a. {92} case 14-U-46
14-
U-
47		 female/
prenatal		 CH de novo
 47,XX,+mar[100%] inv dup(14)(q11.1) ceps slight sonographic abnormalities;
no further info available
{92} case 14-U-47
14-
U-
48		 female/
12y		 PBL; fibro
 de novo
 blood: 47,XX,+mar[100%]
skin 46,XX[97%]/
46,XX,i(14)(q10)[3%]
 inv dup(14)(p10) ceps
UPD test
 dwarphism; skin pigmentation
 {91}

Cases with complex sSMC (Uc)

case no.
 		gender/
age at diagnosis
studied
material
 		de novo/
inherited
 		GTG-banding result
grade of mosaicism
 		final result of the sSMC
 		test
methods
 		clinical symptoms
 		Reference
14-
Uc-
1		 male/
prenatal		 AF de novo 46,XY,der(13;14),
+mar[100%]		 46,XX,t(13;14)(p11.2;p11.1)
can be an sSMC in next generation		 subcenM normal child born {0} provided by Dr. Manolakis; Greece
14-
Uc-
2
 male/
prenatal		 AF; PBL de novo 47,XY,+mar[100%] dic(14;15)(q11.2;q11.1) cep 14/22; cep 15; cep 13/21 characterization of #14 by p-arm polymorphism analysis   AMA; no ultrasound abnormalities; normal child born at term {11} case 2; {73}
14-
Uc-
3		 n.a./
prenatal		 AF maternal
t(3;14)		 47,+mar[?%] der(14)t(3;14) n.a. TOP {57} 1 case; {73}
14-
Uc-
4
 female/
postnatal		 PBL n.a. 47,XX,+mar,16qh-[19]/
46,XX,16qh-[1]		 der(14)t(5;14)(p13.3;q13) cenM; subcenM; MCB Psychomotor delay, coloboma, cleft palate, agenesis of corpus callosum, dysmorphic ears, abnormal external genitalia, microcephaly {72; 73};
{92} case 14-Uc-4
14-
Uc-
5		 female/
prenatal		 AF n.a. 47,XX,+mar[100%]
der(14)t(14;16)
(q12;q21)		 MLPA; BACs and cep pes equinovarus bilateral, overlapping fingers, intrauterine growth retardation {59} case 11; {73}
14-
Uc-
6
 male/
postnatal		 PBL mat t(14;16) 47,XY,+mar[100%] der(14)t(14;16)
(q11.2;p13.13)		 aCGH DD, DYS
cutis marmorata, microcephaly, bilateral
clubfeet, hernia		 {84} case P15
14-
Uc-
7		 male/
5y		 PBL maternal
t(14;17)		 47,XY,+mar[100%] der(14)t(14;17)(q11.2;q25.3) subcenM body and facial DYS, arachnoid cyst behind cerebellum, pineal gland cysts, psychomotor retardation, cafe au lait skin stains {73};
{92} case 14-Uc-7
14-
Uc-
8
 male/
prenatal		 AF mat 47,XY,+mar[100%] der(14)t(3;14)(p24.1;q21.1) aCGH detected prenatally, TOP {67} case 38; {73}
short stature, DD, primary hypogonadism, congenital malformation of pancreas, secondary cardiomyopathy, bilateral myopia, retinal microangiopathy (bilateral), exophtalmos, facial dysmorphisms, abnormal dental development, prognathia, testicular hypoplasia.
14-
Uc-
9		 female/
postnatal		 PBL de novo 47,XX,+mar[11]/
46,XX[19]		 der(14)t(14;19)(q11.1;p13.12) acro cenM, subcenM DD, short stature {68} case 7; {73}
14-
Uc-
10		 male/
3y		 PBPBLL n.a. 47,XY,+mar[100%]
der(14)t(8;14)(p23;q22)		 diff. FISH probe sets DD, microsomia, brachycephaly, DYS {73; 76}; {92} case 14-Uc-10
14-
Uc-
11		 female/
newborn		 PBL mat
(balanced in mother)		 47,XY,+der(14)t(8;14)(p11.1;q11.1)[100%] none DYS, hypotonia {69}
14-
Uc-
12		 female/
postnatal		 PBL mat
(balanced in mother)		 47,XY,+mar[100%] der(14)t(6;14)(p25;q11.1~11.2) pericentric BAC-probe set DYS at birth {73} cases 10 and 11;
{92} case 14-Uc-12
14-
Uc-
13		 female/
prenatal		 AF de novo 46,XX,t(13;14),+mar[100%] 46,XX,t(13;14)(p11.2;p11.1)dn subcenM AMA; no further info {92} case 14-Uc-13
14-
Uc-
14		 male/
30y		 PBL n.a. 46,XY,t(14;21),+mar 46,XY,t(14;21)(q11.1~11.2;p13) subcenM normal male, infertility {92} case 14-Uc-14
14-
Uc-
15		 male/
4y		 PBL n.a. 47,XY,+mar[100%] der(14)t(14;16)(q11.2;p13.13) aCGH multiple malformations {79}
14-
Uc-
16		 male/
prenatal		 AF mat
(balanced in mother)		 47,XY,+mar[100%] der(14)t(X;14)(q28;q11.2)
aCGH: 3.55 MB proximal duplication of 14q11.2 and a 2.10 MB terminal duplication of Xq28		 aCGH multiple malformations {85}
14-
Uc-
17		 female/
3y
 PBL mat
(balanced t(1;14) in mother; she also has partial trisomy 5q35.3 to 5qter
 47,XY,+mar[100%] der(14)(5qter→5q35.3:
:14p1?3→14q13:
1q44→1qter)
 aCGH;
FISH
 different malformations {92} case 14-Uc-17
14-
Uc-
18
 n.a./
n.a.		 n.a. mat
(balanced in mother)
 47,XX,+mar[100%] der(14)t(10;14)(p15;q13) n.a. DD, short stature {87}
14-
Uc-
19
 female/
8y
 PBL pat
(balanced in father)
 47,XX,+mar[100%] der(14)t(14;17)(p11.2;p11.2) FISH DD, DYS, growth retardation
 {89}
14-
Uc-
20
 female/
3y
 PBL mat
(balanced in mother)
 47,XX,+mar[100%] der(14)t(14;16)
(q11.1~11.2;q21)		 FISH; aCGH
 different malformations {0} provided from Düsseldorf
14-
Uc-
21 to 22
 n.a./
postnatal
 PBL pat
(balanced in father) 		47,XN,+mar[100%] der(14)t(5;14)(q35.3;q24.2) FISH
 different malformations {96, 97}
2 cases
14-
Uc-
23 to 24
 n.a./
postnatal
 PBL parental
 47,XN,+mar[100%] der(14)t(10;14)(q26;q13) FISH
 different malformations {96, 97}
2 cases
14-
Uc-
25
 male/
6m
 PBL mat
(balanced in mother) 		47,XY,+mar[100%] der(14)t(10;14)(p11;q11)* n.a.
 different malformations {98}
14-
Uc-
25
 male/
5y
 PBL mat
(balanced in mother) 		47,XY,+mar[100%] der(14)t(12;14)(p13;q22) n.a.
 different malformations {99}
14-
Uc-
26
 female/
4.5y
 PBL pat
(balanced in father) 		47,XX,+mar[100%] der(14),t(8;14)(q24;q21) n.a.
 different malformations {102}
14-
Uc-
27
 female/
2m
 PBL pat
(balanced in father) 		47,XX,+mar[100%] der(14)t(1;14)(q44;q22) n.a.
 different malformations {103}
14-
Uc-
28
 male/
6m
 PBL mat
(balanced in mother) 		47,XY,+mar[100%] der(14)t(3;14)(q28;q13.1) aCGH
 different malformations {104}
14-
Uc-
29
 male/
18y
 PBL mat
(balanced in mother) 		47,XY,+mar[100%] der(14)t(3;14)(p25;q21)) n.a.
 different malformations {105}
14-
Uc-
30
 female/
1m
 PBL mat
(balanced in mother) 		47,XX,+mar[100%] der(14)t(9;14)(p13;q22) FISH
 different malformations {106}
14-
Uc-
31
 female/
1y
 PBL mat
(balanced in mother) 		47,XX,+mar[100%] der(14)t(8;14)(p22.3;q21.?2) FISH, diff. probes
 DYS, DD {0} provided from Moroc


Cases with discontinous sSMC (Ud)

case no.
 		gender/
age at diagnosis
studied
material
 		de novo/
inherited
 		GTG-banding result
grade of mosaicism
 		final result of the sSMC
 		test
methods
 		clinical symptoms
 		Reference
14-
Ud-
1 		male/
8y 		PBL de novo 47,XY,+mar[90%]/
46,XY[10%] 		r(14)(::p11?.1→q11.1:
:q13.3-q21.1::)[96%]/
r(14;14)(::p11?.1
→q11.1: :q13.3-q21.1:
:p11?.1→q11.1:
:q13.3-q21.1::)[4%] 		different FISH-probes: telomeric probe; all centromeric probes; UPD-test DD, MR, hypotonia, speech delay, dribbling {8} case 5

Cases with UPD (Uu)

case no.
 		gender/
age at diagnosis
studied
material
 		de novo/
inherited
 		GTG-banding result
grade of mosaicism
 		final result of the sSMC
 		test
methods
 		clinical symptoms
 		Reference
14-
Uu-
1		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(14)
maternal UPD		 n.a.; UPD-test AMA; normal child born; weight 2910g, length 51cm, OFC 34cm; no further information available {35} case 7;
{92} case 14-Uu-1
14-
Uu-
2		 female/
1y		 PBL de novo 47,XX,+mar[44]/
46,XX[6]		 inv dup(14)(q11)
paternal isoUPD 14		 centromeric probes, subcenM; UPD-test see below {41}
Patient born after a pregnancy complicated by severe polyhydramnion. No invasive prenatal diagnostics was done. Delivery was by Caesarean because of fetal distress at 37 weeks gestation. Birth weight 2,500 g (10th centile), OFC 34.8 cm (50th centile), and APGAR scores were 5 and 6 at 1 and 5 min, respectively. At birth profoundly hypotonic with reduced respiratory effort and required positive pressure ventilation. On examination, thorax small and bell shaped. Chest X-ray demonstrated lung hypoplasia, a ‘coat hanger’ shape of the ribs and elongated clavicles. There was stippled premature ossification of the proximal humeral epiphyses. She had a marked scoliosis convex to the[nbsp] right. Palpebral fissures were short. There were contractures of the wrists with ulnar deviation bilaterally, second digit extensor contractures and swan neck deformity of third and fourth digits bilaterally. She had a prominent forehead with an elongated philtrum, a midline tubercle of the upper lip vermilion, and a broad flat nasal bridge with anteverted nares. She had an H-shaped pattern of creases under the lower lips reminiscent of the Freeman-Sheldon syndrome. Skull X-ray revealed a hypoplastic maxilla and mandible and a small anterior fossa. There was diastasis of the recti and significant hepatomegaly. She developed severe pulmonary hypertension with right heart enlargement and a large patent ductus on day 2 of life, required continuous positive airways pressure until day 43 and had supplemental oxygen therapy after discharge at a variable flow of 100-250 ml/min. She required nasogastric tube feeding due to a poor swallowing reflex and inadequate airway protection, and regular oropharyngeal suction was necessary. She developed recurrent episodes of pneumonia and died of respiratory failure secondary to a respiratory infection at age 5 months. Autopsy demonstrated architecturally and cytological normal skeletal muscle, skin, liver, and nerves.
14-
Uu-
3		 male/
31y		 PBL
(EKF-
cellbank)		 de novo 47,XY,+mar[26]/ 46,XY[4] min(14)(pter→q11.1:)
maternal UPD 14		 acrocenM, subcenM; UPD-test male with short stature and adipositas {72};
{92} case 14-Uu-3
14-
Uu-
4		 male/
prenatal		 AF and PBL de novo 47,XY,+mar[100%] min(14)(pter→q11.1~q11.2:)
maternal UPD 14		 different FISH-probes: subcenM; UPD-test see below {35} case 3; {92} case 14-Uu-4
Amniocentesis due to abnormal triple test; child born in week 29 - birth weight 950g (10.th centile), length 37 cm (25th centile), OFC 26.3 (25th centile), APGAR 7/7; hypotonia up to 18 months of age-developmental delay; no mental retardation; at 4y all values <3rd centile (height 85cm, weight 11.5 kg, OFC 47,5 cm); microcephaly, simian crease, DD, small stature, hypotonic
14-
Uu-
5		 female/
newborn		 PBL de novo 47,XX,+mar[8]/
46,XX[18]		 r(14)(::p11.2→q12::)*
aCGH: break in q12: 30.94MB
maternal UPD 14; sSMC derived from paternal chromosome 14		 SKY, aCGH West syndrome
 {66}
14-
Uu-
6
 female/
2y		 PBL n.a. 47,XX,+mar[?%]/
46,XX[?%]		 mar(14)
UPD(14)mat		 aCGH Temple syndrome {80} case 6
14-
Uu-
7
 female/
6y		 PBL n.a. 47,XX,+mar[?%]/
46,XX[?%]		 mar(14)(pter
→q11.2:) UPD(14)mat		 aCGH Temple syndrome {86}
14-
Uu-
8
 male/
9y		 PBL n.a. PBL:
47,XY,+mar[21]/
46,XY[4]
light skin: 47,XY,+mar[2]/
46,XY[28]
dark skin: 47,XY,+mar[5]/
46,XY[25]		 min(14)(p11.1
→q11.1:)* UPD(14)mat		 aCGH Temple syndrome {95}
14-
Uu-
9
 female/
newborn		 PBL de novo
 47,XX,+mar[100%] min(14)(pter
→q11.2:)* UPD(14)mat
hg19: break at 21.560602 Mb
 aCGH Kagami Ogata syndrome {107}