ChromosOmics - Database

Icon by Leon Liehr                   

                                                          -  multiple sSMC -                                  
                         - from 2 different CHROMOSOMES derived -                                               

ONLY CASES ARE INCLUDED HERE, WHERE THE ORIGIN OF THE sSMC WAS CHARACTERIZED
CASES DESCRIBED IN PRE-FISH ERA ARE NOT LISTED.

In general 70% of sSMC carriers are clinically normal. The figures listed here
are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!
Also cases with multiple sSMC are more likely to lead to clinical aberrations than cases with one sSMC.


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
mult
2-1		 female/
1m		 PBL de novo 48,XX,+mar1,+mar2x1-x5[22%]/
47,XX,+mar2x1-x5[78%]		 mar1 = r(3)
mar2 = unknown (not tested werecep2, cep4, cep8, cep15)		 FISH with all available centromeric probes delayed development, short stature and microcephaly at age of 7y {2} case 2
***
mult
2-2/
chr13
°°°
 male/
5y		 PBL de novo 47,XY,+mar[17]/
46,XY[8]		 48,XY,+min(3)(:p12.1q11.2:),
+min(13)(pter→q12.1:)*[9]/
47,XY,+min(3)(:p12.1q12.1:)[16]/
47,XY,+min(13)(pter→q12.1:)[17]/
46,XY[42]		 CGH, centromeric probes
M-FISH		 see below {3}
At age of 5y height 44.25 inchers (90th centile), weight 25.5 kg (50th centile), HC 54cm (35th centile); dysmorphic features like flat face, prominent nose, long philtrum, low-set, posteriorly rotated ears, sub mucous cleft, retrognathia, speech delay; developmental delay and hyperactivity
mult
2-3		 male/
4y		 PBL
 de novo 48,XY,+mar1,+mar2[39%]
47,XY,+mar1[23%]/
47,XY,+mar2[20%]
46,XY[17%]		 mar1 = r(6),
mar2 = r(9)		 D6Z1; cep9 (pMR9A); wcp 6; wcp 9; telomeric probes uneventful pregancy and delivery, walking at age of 30 months, speech at 3 years; global developmental retardation; some autistic features, broad philtrum, clinodactyly {4}
mult
2-4		 male/
4m		 PBL
 de novo 48,XY,+mar1,+mar2[56%]/
47,XY,+mar1[44%]		 mar1 = r(6)
mar2 =r(X)		 FISH with all available centromeric probes delayed development, seizure disorder, microcephaly, dysmorphic features {2} case 3
mult
2-5		 female/
n.a.		 PBL n.a. 48,XX,+mar1,+mar2[9]/
47,XX,+mar1[11]
 mar1 = mar(6)
mar2 = not identified; satellited?		 SKY dysmorphic features, early onset scoliosis, developmental delay, microcephaly {6} case 7
mult
2-6		 female/
prenatal		 AF de novo 48,XX,+2mar[12]/
47,XX,+mar[3]
 min(9)(:p11→q11:), min(20)(p11.2→q11.1)[16]/ min(9)(:p11→q11:)[4] cenM;
subcenM		 amniocentesis due to abnormal triple test results; hygroma colli detected in ultrasound; pregnancy terminated {7} case 34
{19}
mult
2-7		 male/
prenatal		 AF de novo 47,XY,+mar[11]/
46,XY[11]		 i(10)(:p11.1→q11.1:
:p.or.q11.1→q11.1 or p11.1)[15]/
i(10)(pter→q11.21:
:q11.21→pter)x2 (tetraploid mitosis)[2]/
min(18)(p11.1→q11.1)[3]		 cenM;
subcenM		 singular umbilical cord artery, complex heart defect and microcephalus detected in ultrasound; fetus spontaneously aborted {7} case 35
mult
2-8
 female/
13y		 PBL de novo 49,XX,+r,+r,+r[4]/
48,XX,+r,+r[19]/
47,XX,+r[34]/
46,XX[18]		 ?;
r(X),r(17)
r(X) / r(17)		 different FISH-probes:
centromeric probe for X and 17		 see below {8}
Family history of NF1; at age of 6 years. At age 12 1/2: height 121 cm (- 6 s.d.), weight 24.5 kg (- 4 s.d.), head circumference 50 cm ( - 2 s.d.). Inner canthal distance 2.6 cm (10th centile) outer canthal distance 7.1 cm (3rd centile); blood pressure 100/68 mm Hg, no heart murmur; single transverse palmar crease on the left and normal crease on the right; short 5th fingers; genitalia + breasts at Tanner stage I, extensive freckling on the body and on the back of her hands + bilateral axillary freckling; >5 cafè-au-lait spots; mild speech impediment
mult
2-9		 female/
4y		 PBL de novo 48,XX,+mar1,+mar2[32%]/
47,XX,+mar1[54%]/
46,XX[14%]		 mar1 = r(18)
mar2 = r(13)
 SKY see below {10}
marked delay in speech, slight motor delay; dysmorphic signs like medial flare eyebrows, synorphs, long eyelashes, full cheek, hyperconvex finger nails, clinodactyly of Vth finger, large space between 1. and 2. toe, deep plantar creases, prominent calcaneous
mult
2-10
 female/
5y		 PBL de novo 48,XX,+mar1,+mar2[16%]/
47,XX,+mar1[26%]/
47,XX,+mar2[22%%]
46,XX[36%]		 mar1 = min(6)(:p11.2→q12:)*
mar2 = min(11)(:p11.11→q11:)*		 SKY
proximal YAC probes for 6p and 6q		 see below {11}
Born at 40 wk gestation after a pregnancy complicated by hypertension. Birth weight 3,650 g, length 54 cm, head circumference 37 cm. Apgar index 7/8/9, pH of umbilical arterial blood 7.31. Child hypotonic, developed difficulties in breathing, followed by a transient cyanosis. Child presented a variety of craniofacial dysmorphic features: frontal bossing; severe hypoplasia of the middle face with a broad nasal bridge; a down-turned mouth with thin lips; large, dysplastic ears; an atypical furrow of the fourth left finger; premature synostosis of the sagittal and basal parts of the coronary sutures; Postnatal sonography revealed an atrial septum defect, a persistent ductus arteriousus botallo, and hypoplasia of the left kidney. Neurologically, nystagmus in combination with divergent strabismus was noted. At the age of 5 y considerable motor difficulties, especially in regard to motor coordination; however, verbal abilities were nearly in accordance with age.
mult
2-11
 female twins/
1m?		 PBL
skin fibroblasts		 de novo Twin A: 48,XX,+r1,+r2[35]/
47,XX,+r1[7]/
47,XX,+r2[8]
Twin B: 48,XX,+r1,+r2[33]/
47,XX,+r1[12]/
47,XX,+r2[3]/
46,XX[2]in fibroblasts 30%/4%/54%/12%		 r1 = r(1)(::p13→q21::)
r2 =
r(16)(::p11.1→q11.2::)*		 all centromeric probes see below {12}
Twins born in week 25/26: weight 632-672g; Apgar scores 5/7; no dysmorphic features after birth detected; both with grade II intraventricular hemorrhage and stage III, zone III retinopathy of prematurety. Twin A at 23m: microcephaly, growth and developmental delay, hypertelorism, flat nasal bridge, epicantic folds ;strawberry hemangiomas; HC = 45cm (>centile), able to walk, specking 2 words. Twin B at 23m: microcephaly, growth delay; bifid right thumb and left inguinal hernia; HC 43.5cm (4SD below mean); prominent metopic suture. Able to walk, and babble.
mult
2-12		 male/
20m		 PBL de novo 48,XY,+r1,+r2[20%]/
47,XY,+r1[40%]/
47,XY,+r2[40%]		 r1 = r(13 or 21)
r2 = r(18)		 FISH with all available centromeric probes
see below		 {14;15} case 20
multiple congenital abnormalities; at birth he had a truncus arteriousus type I; atrial and ventricular septal defects, A-V canal, sepsis, pyloric stenosis, seizures resulting from front-parieto-temporal intracranial hemorrhage; at 11m he sat, crawled, walked, smiled, babbled and developmentally normal; at 20m weight at 70-90th percentile, OFC at 2. percentile, internal strabismus, malformation of T-12 vertebrae, levo scoliosis, microphallus
mult
2-13
 female/
22y/ daughter/
1w		 PBL de novo in mother 47,XX,+r1[53%]/
47,XX,+r2[4%]/
46,XX[43%] mother
48,XX,+r1,+r2[10%]/
47,XX,+r1[10%]/
47,XX,+r2[40%]/
46,XX[40%] daughter		 r1 = r(13 or 21)
r2 = r(12)		 FISH with all available centromeric probes see below {14;15} case 21a and 21b
mother: developmental delay and heart murmur, bilateral postaxial polydactyly, neonatal rectal fissure, umbilical hernia, minor cerebral palsy, learning disabilities, low normal intelligence daughter: (father normal chromosomes); at birth 1648g, born in week 31, 43cm long, with large head (OFC 33cm) with extended occiput, small ears and mouth, froglike positioning of legs, bilateral simian crease, duodenal atresia, an annular pancreas, patent ductus arteriousus, arterial septal defect; at 9days she developed a grade 4 intraventricular hemorrageand died at day 12.
mult
2-14		 male/
prenatal		 AF/PBL de novo 48,XY,+r1,+r2[67%]/
47,XY,+r1[28%]
46,XY[5%%]
(in PBL 42%/42%/16%)		 r1 = r(3)
r2 = unknown (only tested for 2, 8, 13/21, 14/22, 15, 18, 20, X, Y
no additional material available)		 FISH with all available centromeric probes normal at birth {16} case 28
mult
2-15		 female/
1w		 PBL de novo 48,XX,+mar1,+mar2[?]/
47,XX,+mar1[?]
47,XX,+mar2[?]		 mar1: r(9)(::p13.2→q10~11::)
mar2: r(18)(::p11.23→q12.1::)		 M-FISH; different FISH probes (BACs) initially Down syndrome suspected {20}
mult
2-16		 male/
child		 PBL de novo 48,XY,+mar1,+mar2[?]/
47,XY,+mar1[?]/
47,XY,+mar2[?]/
46,XY[?]		 mar 1: mar(11)
mar2: ?		 different cep-probes mild psychomotor delay
 {21} case 4
mult
2-17
 female/
prenatal		 AF and PBL paternal ?
2/100 cells with mar		 48,XX,+2mar[23]/
47,XX,+mar[10]/
46,XX[8] from AF;
48,XX,+2mar[7]/
47,XX,+mar[7]/
46,XX[1] from PBL		 r(X)(::p11.2→q12::)
inv dup(15)(:q11.1→q11.2:)
X-chr.: 57.73-64.59
chr. 15: 0.00-21.05		 midi, array-CGH
 see below {0} provided by Dr. A Dufke, Tübingen, Germany
advanced maternal age, previous pregnancy with hydrops fetalis and 45,X; this pregnancy was carried on and a normal female baby was born, (weight: 3500g, length 36cm, OFC 36cm, APGAR 9/10/10. Now at 8y acc. to mother no abnormalities, only growth delay; no mental problems.
mult
2-18		 female/
6y		 PBL
(EKF-
cellbank)		 n.a. 48,XX,+mar1,+mar2[101]/
47,XX,+mar1[38]/
47,XX,+mar2[29]/
46,XX[5]		 min(4)(:p12→q12:); r(18)(::p11.21→q11.2:
:p11.21→q11.2::)[2]/
inv dup(18)(:p11.1→q11.1:
:q11.1→p11.1:)[4]/
min(18)(:p11.21→q11.1:
:q11.1→p11.1:)[4]
chr 4: 48.34-59.71
chr. 18: 13.17-18.73
 M-FISH, subcenM; midi
aCGH; UPD-test		 dysmorphic features, multiple congenital malformations {0}
{27} case MK
{28}case 15
mult
2-19
 female/
8y		 PBL
(EKF-
cellbank)		 n.a. 49,XX,+3mar[1]/
48,XX,+2mar[10]/
47,XX,+mar[9]/
46,XX[3]
 r(5)(::p11→q11.1:
:q12→13.1~3::)
40.66MB to 47.10MB[nbsp]
min(6)(:p11.1→q11.2:);
57.10MB to 64.87MB		 MCB; subcenM; midi; aCGH see below {0}
{24}
born at term in week 40; length 51 cm, weight 3580g, OFC 35cm; small fontanels and epicanthus on both sides but normal after birth; OFC developed along 3rd centile; adiposities; developmental retardation; At 6 y, adiposities, telecanthus, epicanthus and other minor dysmorphism. mental and developmental retarded. As young adult woman living independently and normal life with profession in health care system.
mult
2-20
 male/
10y		 PBL de novo 48,XX,+mar1,+mar2[68]/
47,XX,+mar1[19]/
47,XX,+mar2[6]/
46,XX[8]		 r(Y)(::p11.3→q11.2::)
r(8)(::p11→q11::)		 midi; some probes as specified in {22}; UPD-test for #8 see below {22}
Born at term; birth weight: 2,900 g, birth length 48 cm. At 10y learning difficulties and severe speech delay. Motor development was normal, speech development delayed and began at age 6 y. At the age of gynecomastia (Tanner stage 2), mild eunuchoid overgrowth (165 cm, height of the mother was 175 cm and of the father was 175 cm), mild obesity (68.5 kg), and normal head circumference; mild facial anomalies including long face, lateral hypoplasia of eyebrows, almond shaped eyes, epicanthic folds, broad bulbous nose, thin upper lip, down-turned corners of the mouth, small teeth, narrow palate, and large ears with mildly dysplastic pinnae and thickened helix. Fingers and toes slender, body hair decreased. Computed tomography of brain normal. At age of 13 y poor language, speech, and writing skills, including ungrammatical speech, articulation dyspraxia, and a vocabulary below age-appropriate standards. Nonverbal abilities and memory normal.
mult
2-21
 male/
3y		 PBL
(EKF-
cellbank)		 de novo 49,XY,mar2x2[7]/
48,XY,mar1,mar2[52]/
47,XY,mar1[37]/
46,XY[4]		 r(8)(:p12→q11.1:
:q11.1→p21.1:),
min(8)(:p11.22→q11.21:
:q11.21→p21.1::p21.1→
p11.22:) [70%],
min(21)(:p11.1→q21.3:) [30%]
chr 8: 28.63-48.74 MB
chr 21: 13.30-28.90 MB		 M-FISH, subcenM
array-CGH; UPD-test for #21		 see below {0}
{27} case NP
{28} case 16
{36}
Intrauterine and postnatal growth retardation, at 6y microcephaly, brachycephaly, hypotonia, psychomotor retardation, partial agenesis of corpus callosum abnormal dermatoglyphic patterns and facial dysmorphism (slant up palpebral fissures, anteverted nares, relatively large ears, prominent lower lip, long philtrum)
mult
2-22		 male/
prenatal		 AF n.a. 48,XY,+mar1,+mar2[100%]
 mar1 = mar(13/21)
mar2 = mar(17)
 n.a. abnormal ultrasound findings; duodenal atresia, polyhydramnions stillbirth {25} case 105
mult
2-23		 female/
prenatal		 AF n.a. 48,XX,+mar1,+mar2[8]/
47,XX,+mar1[7]		 mar1 = mar(13/21)
mar2 = non-acrocentric		 n.a. positive multiple marker serum screen; normal at 3 momths {25} case 106
mult
2-24		 female/
prenatal		 AF n.a. 48,XX,+mar1,+mar2[8]/
47,XX,+mar1[5]/
47,XX,+mar2[3]/
46,XX[8]		 mar1 = mar(18)
mar2 = no result		 n.a. advanced maternal age; TOP
 {25} case 107
mult
2-25		 female/
prenatal		 AF de novo 48,XX,+mar1,+mar2[1]/
47,XX,+mar1[8]/
47,XX,+mar2[4]/
46,XX[6]		 mar1 = min(1)(:p11.1→q12:)
mar2 = min(8)(:p11.21→q11.1:)		 cenM; subcenM fallot tetralogy and diaphragmic hernia in week 18 (US), child born and died after a few days {0} provided by Dr. Mehnert, Neu-Ulm, Germany
mult
2-26
 female /
adult		 PBL n.a. 48,XX,+2mar[50%]/
47,XX,+mar[50%]		 r(7)(::p11.2→q11.21::)[10]/
r(7)(::p11.2→q11.21:
:p11.2→q11.21::)[2] and min(13)(pter→q12.1:)		 cenM; subcenM; UPD-test see below {0} provided by Dr. Michal Sagai, Israel
Patient mildly mentally impaired and that her husband is likewise. She was a slow developer as a child, and her parents thought she may have had mild cerebral palsy. However she is a completely functioning adult - was working in an office job, looking after a household, and a very conscientious mother. She is slightly dysmorphic - has a slightly coarse face with a prominent lower jaw. sSMC 7 is present in 11/100 buccal mucosa cells
mult
2-27		 n.a./
postnatal		 PBL n.a. 48,+mar1,+mar2[36%]/
47,+mar1[36%]/
47,+mar2[28%]
 mar1: min(11)(:p10→q12.1:)
distal clone in 11q RP11-736I10 (59.61MB)
mar2:
min(17)(:p11.2→q10:)
distal clone in 17p
RP11-64J19 (21.01MB)		 aCGH multiple congenital abnormalities {26} case 6
{31} case 10
mult
2-28		 female/
4 m		 PBL n.a. 48,XX,+mar1,+mar2[16]/
47,XX,+mar2[4]		 mar1:
min(8)(:p11.1→q11.21~11.22:)
mar2
min(11)(:p11.1→q11.1:)
 cenM; subcenM prematurity {0} provided by J. Anderson, Brisbane, Australia
mult
2-29		 female/
42 y		 PBL n.a. 49,XXX,+mar1,+mar2/
48,XXX,+mar1		 mar1:
inv dup(14/22)(q11.1)
mar 2:
inv dup(15)(q11.1)
 midi; cep probes, aCGH normal female, mar 1 detected in child {0} provided by Dr. Gloning, Munich, Germany
mult
2-30
 male/
8y		 PBL de novo 48,XY,+mar1,+mar2[13]/
47,XY,+mar1[9]/ 47,XY,+mar2[13]/
46,XY[19]		 markers not specified in detail:
mar(13/21)(?pter→q12.11:)
breakpoint in q at 20.83MB
min(17)(:p11.2→q11.2:)
breakpoint in p at 20.59MB and in q at 25.72MB
sSMC 17 derived from maternal chromosome 17		 BACS as specified in {33}; aCGH (SNP-chip); UPD-test for #17 see below {33}
At birth: 2,994 g; as baby: hypotonia and micrognathia. Sitting at 9m, crawling at 1y, walking at 18m; at 6y IQ 40; at 8y developmental delay, verbal and oral apraxia, oropharyngeal dysphasia, uses an augmentative communication device at school and has a 10-word vocabulary. Hearing evaluations have been normal. Autism, significant inattention and hyperactivity. Also had a single febrile seizure and EEG abnormalities and ophthalmologic abnormalities including hypermetropia, esotropia, and astigmatism. Normal anthropomorphic measurements. Also present mild dysmorphic features including a prominent forehead and a high arched palate. Three hair whorls were present. Chest exam revealed a mild pectus excavatum. There was mild fifth finger clinodactyly bilaterally and hyperextensibility of the digits. An MRI of the brain showed mild inferior cerebellar vermian hypoplasia and mild thinning of the corpus callosum. A sleep study was normal with the exception of an abnormal EEG showing prominent spike and wave activity.
mult
2-31		 male/
postnatal
PBL		 n.a. 48,XY,+mar1,+mar2/
47,XY+mar/
46,XY		 mar1 = min(9)(:p12→q12:)
mar2= r(8)(::p21→q11.21::)		 cenM, subcenM, MCB n.a. {0} provided by Dr. C. Fuster, Spain
mult
2-32		 female/
1y		 PBL n.a. 48,XX,+mar1,+mar2[22]/
47,XX,+8[21]/
47,XX,+mar1[8]/
46,XX[22]		 mar 1= min(8)(:p11.21→q11.1:)
mar 2 = min(20)(:p11.2→q11.1:)		 cenM, subcenM multiple congenital malformations {0} provided by Dr. A. Polityko, Minsk, Belarus
mult
2-33
 female/
prenatal		 chord blood n.a.
 48,XX,+mar1,+mar2[100%] inv dup(13;21)(q11.1)
dic(4;4)(:p12→q12:
:p12→q12:)		 cenM, subcenM
see below		 {0} provided by Dr. Horacek, Czech republic
Autopsy result: female fetus, induced abortion at gestational week 22, length 28 cm. Facial dysmorphism, wide nose bridge, macroglossia, low-set ears. Body and limbs with no external abnormalities, no pathological findings (macro- and microscopically) on brain, lungs, kidneys, adrenal gland, gallbladder, external and internal female genitalia, morphology corresponding with the gestational age.
mult
2-34		 female/
postnatal?		 PBL? n.a. 48,XX,+mar1,+mar2[93%]/
46,XX[7%]		 mar 1= min(13)(pter→q12.12:)
mar 2 = mar(20)(:p11.21→q11:)		 aCGH abnormal {34} case 25862
mult
2-35		 male/
postnatal?		 PBL? n.a. 48,XY,+mar1,+mar2[21%]/
46,XY[79%]		 mar 1= min(13)(pter→q12.11:)
mar 2 = mar(X)(:?::Xp22.31→Xp22.31:
:Xp22.2→Xp22.12:
:?→cen?:)		 aCGH abnormal {34} case 27978
mult
2-36		 female/
postnatal?		 PBL? n.a. 48,XX,+mar1,+mar2[63%]/
46,XX[37%]		 mar 1= mar(4)(:p13→q12:)
mar 2 = min(13)(pter→q12.11:)		 aCGH abnormal {34} case 31633
mult
2-37		 female/
postnatal		 PBL
 de novo 48,X,+mar1,+mar2[20]/
46,X,+mar1[12]		 mar 1= inv dup(13or21)(q11.1)
mar 2 = inv dup(Y)(q11.2)		 cep probes, subcenM, SRY nanosomia {0}
mult
2-38		 male/
postnatal		 PBL de novo 48,XY,+mar1,+mar2[100%] mar 1= min(16)(:p11.1→q12:)
mar 2 = min(20)(:p11.2→q11.1:)		 cenM, subcenM nanosomia {0} provided by Dr. Zivi Borochowitz; Israel
***
mult
2-39/
chr 6 and 20
 female/
28y		 PBL n.a. 48,XX,+mar1,+mar2[24]/
47,XX,+mar1 or 2[5]/
46,XX[3]		 mar 1= min(6)(:p11.2→q12:)
mar 2 = min(20)(:p11.21→q11.1:)
breakpoint in 20p: 22.83
sSMC(6): 57.35-66.40		 cep probes
aCGH		 recurrent spontaneous abrtions {44}
mult
2-40		 male/
prenatal		 CH n.a. 47,XX,+mar1[60%]/
46,XX[40%]
second mar not detected in cytogenetics but in FISH		 mar 1= r(4)(:p14→q12:)
mar 2 = min(11)(:p11.1→q11:)

48,XY,+r(4)(::p14→q12::),+min(11)(:p11.11-[gt]q11:)[5]/
48,XY,+r(4;4)(::p14q12::p14→q12::),
+min(11)(:p11.11-[gt]q11:)[5]/
47,XY,+min(11)(:p11.11→q11:)[10]		 cenM, subcenM
aCGH		 AMA, normal sonography; previous pregnancy with trisomy 21 {0} provided by Dr. Duba; Linz, Austria
mult
2-41		 male/
3m		 PBL de novo 48,XX,+mar,+mar[42]/
47,XX,+mar[36]/
46,XX[46]		 min(15)(pter→q11.1:)
min(20)(:p1?1.1→q1?1.1:)		 cenM, subcenM mental retardation; dysmorphism {0} provided by Dr. Mkrtchyan, Yerevan, Armenia
mult
2-42		 male/
prenatal		 PBL - fetal de novo 48,XX,+mar,+mar[?mos?] r(5)(p13.2→q11.2:)
r(20)(:p11.1→q12:)		 cenM, M-FISH, mband severe IUGR {46} case 4
mult
2-43		 n.a./
prenatal		 AF de novo 48,+mar,+mar[6%]/
46[94%]
 mar(14 or 22)
mar(20)		 n.a.; subcenM with 3 BACs; aCGH at birth normal and normal development at 9 months of age {47} case 23
mult
2-44		 female/
postnatal		 PBL de novo 48,XX,+mar1,+mar2 min(2)(:p11→q11.2:)
min(14 or 22pter→14 or 22q11.1::19q12→19q13.31::)*		 aCGH VSD, urinary reflux, corpus callosum agenesis, microphthalmia, obesity {48}
mult
2-45		 female/
31y
 PBL n.a. 48,XX,+mar1,+mar2[4]/
47,XX,+mar1 or 2[13]/
46,XX[3]		 min(1)(:p11.1→q12:)[5]
min(7)(:p11.1→q11.21:)[2]		 cenM, subcenM normal woman, infertile {0} provided by Drs.Wagner, Stibbe, Hannover, Germany
mult
2-46		 female/
prenatal		 AF/ PBL de novo 48,XX,+mar,+mar[15]/
47,XX,+mar[6]		 mar(10)(p11.22→p11.1)
mar(12)(p11.21→q12)
aCGH (hg19):
chr10:34.3-38.7 Mb
chr12:32.0-40.7 Mb		 aCGH prenatal test due to slight sonographic signs;
chold born with overgrowth (l and w an 99. centile); at 1y normal development; at 2.5 years normal, slight tendecy to overgrowth and slight stuttering		 {0} provided by family
mult
2-47		 male/
prenatal		 fibroblasts n.a. 49,XY,+16,+mar,+mar[100%] mar1:
min(1)(:p11.1→q12:)[5]
mar2:
min(7)(:p11.1→q11.21:)[2]		 cenM aborted fetus {0} provided by Dr. Enders, Ulm, Germany
mult
2-48		 female/
8y		 PBL n.a. 48,XX,+mar1,+mar2[49%]/
47,XX,+mar1[51%]		 del(18)(q11.2q21.33),
min(13)(:p11.2→p11:)
or min(21)(:p11.2→q11.1:)
min(18): aCGH: 19,374,451- 57,612,427

 cenM;
subcenM		 heart defects (ASD, Patent ductus arteriousus), malformed ears, strabism, small mouth, thick lips, malocclusion, MR, DD, autoaggression, does not feal pain {0} provided by Dr. Agata Kowalska-Pawlak, Zabrze, Poland
mult
2-49		 female/
adult		 PBL inv dup(15) maternally inherited
 47,XX,+idic(15)(q11.1)mat[100]/
49,XX,+idic(15)(q11.1)mat, +r(9;9;9;9),+min(9)dn[2]		 in abortions: 47,XX,+9[100];  mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN n.a. normal female
 {59}
mult
2-50		 female/
adult		 PBL n.a.
 48,XX,+mar1,+mar2[2]/
47,XX,+mar1[24]/
46,XX[4]		 48,XX,+min(2)(:p11.1→q11.1:), +min(9)(:p11→q12:)[2]/
48,XX,+min(2)(:p11.1→q11.1:), +min(9)(:p11→q11:)[1]/
47,XX,+min(2)(:p11.1→q11.1:)[87]/
46,XX[10]		 cenM;
subcenM		 normal female; infertile
 {0} provided from Greece
mult
2-51		 female/
prenatal		 AF n.a.
 48,XX,+2mar[31]/
47,XX,+mar[53]/
46,XX[14]		 mar(2p11.1q11.2) size 2.6 Mb
mar(10)(p11.23q11.23) size 20.6 Mb		 aCGH
FISH
 no info available
 {60}
mult
2-52		 female/
1y		 PBL n.a.
 49,XX,+mar1x2,+mar2[5]/
48,XX,+mar1x2[35]
mar1: inv dup(15)(q11.1)
mar2: r(1)(p1?1.2q21.?1)		 subcenM
FISH
 DD, microcephaly; atactic
 {0} provided from Neu-Ulm; Germany
mult
2-53		 male/
n.a.		 n.a. n.a.
 48,XY,+mar1,+mar2[35]
mar1:
heterochromatic, not specified - maternal inherited
mar2:
i(18q11.1)		 aCGH
 iso 18p syndrome
 {61}
mult
2-54		 female/
~2y		 PBL de novo
 48,XX,+mar1,+mar2[35]
mar1:
r(5)(p13.2q11.2)
hg19: 36,967,000–52,194,364
mar2:
r(8)(p11.21q11.21)
hg19: 39,963,778–48,649,507  		wcps
aCGH
 DD, DYS, growth retardation, macrocephaly
 {62}