ChromosOmics - Database

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                                                  -  CHROMOSOME #8 -                                                 
UNCLEAR
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
08-
U-
1		 female/
1m		 PBL de novo 47,XX,dir dup(8)(pter→q21: :q11.2→qter),+mar[25%]/ 46,XX,dir dup(8)(pter→q21: :q11.2→qter),[25%]/
46,XX[50%]
r(8)		 different FISH-probes:
all centromeric probes		 multiple clinical abnormalities: small head, divergent squint, low-set posteriorly rotated ears, broad nasal bridge, epicanthic folds, anteriorly placed anus {10} case 12
08-
U-
2		 n.a./
n.a.		 n.a. n.a. 47,+mar min(8) SKY n.a. {11} case 12
08-
U-
3		 n.a./
n.a.		 AF de novo n.a. min(8)(:p11.2~12→q11.?2:)* acro M; M-FISH amniocentesis due to AMA; no clinical details available {14} case 11
08-
U-
4		 female/
prenatal		 CH and AF
de novo		 47,XX,+mar[7]/
46,XX[30] (= CH result)		 r(8)(::p11.2→12q11::)
maybe it means
r(8)(::p11.2→q11::)*		 centromeric probes CVS due to AMA; no ultrasound abnormalities; TOP no autopsy {48} case 32
08-
U-
5		 see mult 2-20
08-
U-
6		 see 08-Ud-4
08-
U-
7		 see mult 2-21
08-
U-
8		 male/
prenatal		 AF de novo 47,XY,+mar[5]/
46,XY[8]		 mar(8) wcp 8? AMA; positive maternal marker serum screen; TOP {61} case 59
08-
U-
9		 see mult 2-25
08-
U-
10		 see 08-Uc-1

08-
U-
11		 see mult 2-28
08-
U-
12		 female/
prenatal		 AF de novo 47,XX,+mar[60%]/
46,XX[40%]		 r(8)(::p11.1→q21.3::) cenM; subcenM AMA, TOP {0} provided from Germany
08-
U-
13		 female/
prenatal		 AF de novo 47,XX,+mar[100%] mar(8)(::p11.21→q11.22::)
Array: 42.15-52.76 MB		 aCGH AMA (?), TOP {87} case 2
08-
U-
14		 male/
1y		 PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]		 r(8) aCGH n.a. {93} case F0451268
08-
U-
15		 female/
prenatal		 AF de novo 47,XN,+mar[12]/
46,XN[2]		 mar(8)(:p11.21→q11.21:)
array: 39.68-48.77MB		 aCGH AMA, TOP; autopsy: corpus callosum hypoplasia {0} provided from Italy
08-
U-
16		 see 08-Uu-1
08-
U-
17		 see 08-Uu-2
08-
U-
18		 female/
10y		 PBL
n.a.		 48,XX,+marx2[53%]/
47,XX,+mar[47%]		 mar(8)
aCGH: 7.47 MB dupl.		 aCGH DD, DYS {103}
08-
U-
19		 female/
46y		 bone marrow n.a. 50,XX,+r(8) or der(8)x4[2]/
49,XX,+r(8) or der(8)x3[8]/
48,XX,+r(8),+der(8) or r(8)+der(8)[50]/
47,XX,+r(8) or der(8)[36]/
46,XX[4]		 r(8)(::p12→q11.1::) midi and rev. FISH acute lymphocytic leukemia, unclear if sSMC acquired or constitutional {0}
08-
U-
20		 male/
newborn		 PBL de novo
47,XY,+8[7]/
47,XY,+mar		 mar(8) cep 8 DYS slight DD {106}
08-
U-
21		 female/
10y		 PBL n.a. 48,XX,+marx2[53%]/
47,XX,+mar[47%]		 mar(8)
aCGH: size 7.47 Mb		 aCGH DD, DYS, MR {108}
08-
U-
22		 male/
2y		 PBL de novo 47,XY,+8[37]/
47,XY,+mar[53]/
46,XY[10]		 min(8)(:p11.2→q11.1:) subcenM see below {0} provided from Serbia
multiple congenital anomalies, hydronephrosis of both kidneys, hypospadia, partial agenesis of corpus callosum, low set ears, neck with pterygia, campotactyly of right hand, antimongolid slant of eyes
08-
U-
23		 see 08-Uc-2
08-
U-
24		 male/
prenatal		 AF/ CH n.a. CH. 47,XY,+mar[18]/
46,XY[7] - AF [17] /[23]		 min(8)(:p12→q12.3:)
breaks at ~38Mb and ~64 Mb		 ceps
subcenM
10 Mb set		 minor or none sonogrpahic signs, TOP {0} provided from Germany
08-
U-
25		 see 08-Uc-3
08-
U-
26		 male/
prenatal		 AF n.a. 47,XY,+mar[39]/
46,XY[11]
 min(8)(:p12→q11.21:)
 aCGH abnromal sonogrpahic signs, TOP {121} case 3
08-
U-
27		 male/
prenatal		 CH / PBL
 n.a.  47,XY,+r(?)[15]/ 46,XY[26] blood: r(8)(p21.3→q13)[8]/
min(8)(:p21.3→q13:)[2]		 M-FISH
subcenM
 normal sonography AMA
 {0} provided from Germany



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
08-
Uc-
1
male/
13 m 		PBL de novo 47,XY,+mar[[gt]30%]/
46,XY 		dic(8;12)(8pter→q11.1:
:12q11.1→12pter) 		n.a. see below {67; 104}
psychomotoric delay, dysmorphic features like macrocephaly, agenesis of corpus callosum, high and prominent forehead, hypertelorism, dysplastic ears, cleft palate, uvula bifida, zygodactylism of 2. and 3. toes and hearing impairment
08-
Uc-
2
 		male/
newborn 		PBL mat t(8:9) 47,XY,+mar[100%] der(8;9)(8pter→8q10:
:9q10→9pter) 		wcp DD, DYS, MR; Dandy-Walker malformation {113}
08-
Uc-
3
 		male/
prenatal 		AF mat t(8:9) 47,XY,+mar[100%] der(8;9)(8pter→q11.2:
:p22→9pter) 		n.a. DYS, TOP {122}

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
08-
Ud-
1		 male/
postnatal		 PBL n.a. 47,XY+mar[100%] min(8)(:p23.3→p23.3:
:p23.1→p23.1:
:p12.11→q10:)*		 aCGH family history of Rieger syndrome, DD , epilepsy at age 18 {81} case 2
08-
Ud-
2		 female/
3y		 PBL n.a. 47,XX,+mar[30%]/
46,XX[70%]
der(8)(:p12→q10::p11.22→p12:)
aCGH (hg19): 40.03-41.23Mb		 aCGH growth retardation {0} provided from Germany
08-
Ud-
3		 n.a./
postnatal		 PBL de novo 48,+marx2[45%]/
47,+mar[45%]/
46[10%]		 r(8)(::p11.23→q11.21:
:8p22::)*
size in p 4.5MB, in q 2.2 MB plus 8p22 material		 n.a.; subcenM with 3 BACs, aCGH learning disabilities; obesity; dysmorphic features {70} case 12
08-
Ud-
4
 female/
7y		 PBL
(EKF-
cellbank)		 n.a.
47,XX,+mar[40%]/
46,XX[60%]		 see below aCGH
PCeR-FISH		 microcephaly, DD {118} case 5
min(8)(:p11.22→p11.21::p11.21→p11.21::p11.21→q11.1::q11.1→q11.21 or q11.23:)
arr[hg19] 8p11.21(41,229,513-42,506,705)x3arr[hg19] 8p11.21p11.1(42,990,994-43,334,210)x3
arr[hg19] 8p11.1q11.1(43,408,350-47,946,306)x3arr[hg19] 8q11.1q11.21(47,986,805-49,590,085)x3
embedded in arr[hg19] 8p11.22q11.23(38,608,478-52,602,657)x2-3 (x2,37)
08-
Ud-
5
 female/
prenatal		 PBL
(EKF-
cellbank)
de novo		 47,XX,+mar[8]/46,XX[7] in culture 1;
47,XX,+mar[7]/46,XX[3] in culture 2		 see below cenM, subcenM; UPD-test AMA; child born with 3210g, no further information available {0} provided from Germany
min(8)(:p11.21→q11.21:)[8]/min(8)(:p11.21→q11.1:)[3]/min(8)(:p11.21→q11.1::q11.1→p11.21:)[1]/
r(8)(:p11.21→q11.1::q11.1→p11.21::q11.21::)[2]
08-
Ud-
6		 female/
postnatal		 PBL de novo 47,XX,+mar[26]/
46,XX[14]		 der(8)(:p11.22→q11.23::8q13.1→q21.11:)
aCGH [GRCH37] 39,258,894-54,975,693, and
67,986,658-74,700,710		 aCGH n.a. {119} case sSMC8c
08-
Ud-
7
 female/
26y		 PBL
buchal mucosa		 n.a. 47,XX,+mar[55%]/
46,XY[45%]
in buc. mucosa:
sSMC in 50%		 r(8)(:p11.22→q12.1:)
"complex rearranged"		 M-FISH; aCGH mild mental retardation, illiteracy, behavioural problems, dysmorphic {105}
08-
Ud-
8
 female/
3y		 PBL
buchal mucosa
bone marrow
urine cells
 de novo 47,XX,+mar[9]/
46,XY[11]
in buc. mucosa:
sSMC in 30%
in BM: 43%, in urine 12%
 mar(8)(:p11.21→q11.21:
:q24.3→q24.3:)
"complex rearranged also in p-arm"		 aCGH almost normal; at 3y neutropenia
 {123}

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
08-
Uu-
1 		female/
postnatal 		PBL de novo 47,XX,+mar[20] mar(8)(:p11.21→p11.1:)
array: 40.69-43.29 MB
segm. UPD 8q12.1 to 8q23.1 (parental origin n.d.) 		aCGH
UPD test 		DD, short stature {98} case 10
08-
Uu-
2
 		female/
prenatal 		AF n.a. 47,XX,+mar[20] mar(8)(:p12→q12:)
array: 37.12-51.48 MB
iso UPD 8 		SNP-aCGH abnormal biochemistry, TOP; holoprosen-
cephaly 		{100} case 8
08-
Uu-
3
male/
6y 		PBL de novo 47,XY,+mar[60%]/
46,XY[40%] 		min(8)(:p11.22→q11.21:)
aCGH-data (hg19):
38,989,813–50,283,147
UPD(8)mat 		aCGH;
UPD-test 		see below {117}
pregnancy with polyhydramnios, and dilatation of the pelvicalyceal system. After birth normal growth pattern with gastroesophageal (GE) reflux for the first few months. At 2 years delayed speech, hypermetropia in the left eye. He talked at 3 years with dysarthria probably secondary to hypotonia. ADHD. At 5 years he could follow the orders of three words, and his fine motor and gross motor skills were at 4 years. Hyperphagia, and at 6 years, weight 28 kg (75th centile), height 123 cm (90th centile), and head circumference is 55 cm ([>2 SD above the mean); mild mental retardation
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