MSSM 44K Prenatal Microarray Disorder List

MSSM 44K Prenatal Microarray Disorder List

Disorder/Condition OMIM# Gene(s) Locus Loss/Gain

1p36 deletion syndrome 607872 multiple 1p36 Loss
NFIA haploinsufficiency 600727 NFIA 1p31.3 Loss
1q21.1 microdeletion syndrome with susceptibility 274000 multiple 1q21.1 Loss

to thrombocytopenia-absent radius (TAR) 612474 multiple 1q21.2 Loss/Gain
1q21.1 microdeletion syndrome with susceptibility
119300 IRF6 1q32.2 Loss
to mental retardation, autism, or congenital anomalies 1q41 Loss
Van der Woude syndrome 229850 multiple/DISP1 (candidate) 1q41 Loss
1q41-q42 microdeletion syndrome 612337 1q43-q44 Loss
Fryns syndorme 164280 DISP1 candidate 2p24.3 Loss
1q43-q44 microdeletion syndrome 606407 2p21 Loss
Feingold syndrome 157170 multiple/AKT3 (candidate) 2p21 Loss
Hypotonia-cystinuria 606407 2p21 Loss
Holoprosencephaly 2 (HPE2) 612513 MYCN 2p16.1-p15 Loss
2p21 microdeletion, homozygous 256100 SLC3A1, PREPL 2q13 Loss
2p15-p16.1 deletion syndrome 609583 SIX3 2q13 Loss
Nephronophthisis 1 (NPH) 235730 Multiple 2q22.3 Loss
Joubert syndrome 4 607208 Multiple 2q24.3 Loss
Mowat-Wilson syndrome (MWS) 606708 NPHP1, MALL 2q31.1 Loss
Severe myoclonic epilepsy of infancy (SMEI) 186000 NPHP1 Loss
Split-hand/split-foot malformation 5 (SHFM5) 119540 ZEB2 (ZFHX1B) 2q31.1-q32 Loss
193500 SCN1A Loss
Synpolydactyly 1 (with foot anomalies) 605934 HDOLXX1D, 9D,L1X02,11, 12,13; Loss
600430 EVX2 Loss
2q32.2-q33 microdeletion syndrome
Waardenburg syndrome, type 1 (WS1) 193300 SATB2/Multiple 2q33.1 Loss
Holoprosencephaly 6 (HPE6) 610168 Loss
Albright hereditary osteodystrophy-like/ 193510 PAX3 2q35 Loss
brachydactyly/mental retardation 110100 Loss
Von Hippel-Lindau syndrome 220200 multiple 2q37.1-q37.3 Loss
Loeys-Dietz syndrome, type 1B (LDS1B) 603285 Loss
Waardenburg syndrome type IIA (WS2A) 206900 CENTG2, GPC1,GRP35, 2q37.3 Loss
609425 Loss
Blepharophimosis, ptosis and epicanthus inversus (BPES) 194190 ATSV/KIF1A, STK25 3p25.3 Loss
Dandy-Walker malformation (DWM) VHL 3p24.1
Cerebral cavernous malformations, type 3 (CCM3) TGFBR2 3p14.1 Loss
Microphthalmia, syndrome 3 (MCOPS3) MITF Loss
3q29 microdeletion syndrome Loss
Wolf-Hirschhorn syndrome FOXL2 3q22.3 Loss
ZIC1, ZIC4 3q24 Gain
PDCD10 3q26.1 Loss
SOX2, CHRD 3q26.33
PAK2, DLG1 3q29 Loss
4p16.3 Loss/Gain
Multiple (LETM1, WFS1,
Loss
Rieger syndrome type 1 (RIEG1) 180500 WHCR1/2) 4q25 Loss
Cri-du-chat syndrome 123450 PITX2 5p15.31-p15.2 Loss
Cornelia de Lange syndrome 1 (CDLS1) 122470 5p13.2 Loss
Familial adenomatous polyposis w/ mental retardation 175100 Multiple (TERT, EGR1) 5q22.2 Loss
604757 NIPBL 5q35.2
Craniosynostosis, type 2 (CRS2) 108900 APC 5q35.2 Gain
Atrial septal defect (ASD) with atrioventricular MSX2 Loss
conduction defects 117550 NKX2-5 Loss
Sotos syndrome 119600 Loss
Cleidocranial dysplasia (CCD) 176270 NSD1 5q35.3
Prader-Willi syndrome-like with obesity 101400
Saethre-Chotzen syndrome 175700 RUNX2 6p21.1
Greig cephalo-polysyndactyly syndrome (GCPS) 603284
Cerebral cavernous malformations, type 2 (CCM2) 194050 SIM1 candidate 6q16.2
Williams-Beuren syndrome (WBS)
TWIST 7p21.3-p21.2

GLI3 7p13

CCM2 7p13

multiple (ELN, RFC2, 7q11.23

LIMK1, WSCR1)

Williams-Beuren region duplication syndrome 609757 GTF2I, LIMK1, WBSCR1 7q11.23
Infantile spasms, MAGI2-related 606382
Cerebral cavernous malformations, type 1 (CCM1) 116860 MAGI2 7q21.11
Split-hand/split-foot malformation (SHFM1) 183600
KRIT1 7q21.2

DLX5, DLX6, DSS1 7q21.2-p21.3

Myoclonus dystonia 159900 SGCE 7q21.3 Loss
Speech-language disorder 1 602081 FOXP2 (candidate) 7q31 Loss
142945 Loss
Holoprosencephaly 3 (HPE3) 176450 SHH 7q36 Loss
Currarino syndrome MNX1 7q36.3 Loss/Gain
8p23.1 microdeletion syndrome 222400 GATA4/multiple 8p23.1-p23.3 Loss
Congenital diaphragmatic hernia 2 (CDH2) 214800 GATA4 (candidate) 8p23.1 Loss
CHARGE 113650 CHD7 8q12.2 Loss/Gain
Branchiootorenal syndrome 1 (BOR1) 166780 EYA1 8q13.3 Loss
Oto-facio-cervical syndrome (OFC) 608156 EYA1 8q13.3 Loss
Nablus mask-like facial syndrome 150230 multiple 8q21.3-q22.1 Loss
Langer-Giedion syndrome (LGS) /TRPS2 190350 TRPS1, EXT1 8q23.3-8q24.1 Loss
Trichorhinophalangeal syndrome 1 (TRPS1) 154230 TRPS1 8q24.12 Loss
Chromosome 9p24.3 deletion syndrome multiple 9p24.3
(46,XY gonadal dysgenesis, with 9p24.3 deletion) 224050 Loss
Cerebellar hypoplasia, VLDLR-related, Hutterite VLDLR 9p24.2
dysequilibrium 158170 Loss
Monosomy 9p deletion syndrome CER1, TYP1 9p23-p22.3
ZDHHC21/multiple Gain
Holoprosencephaly 7 (HPE7) 610828 PTCH1 9q22.3 Loss
Basal cell nevus syndrome (BCNS)/Gorlin Syndrome 109400 PTCH1 9q22.3 Loss
9q22.32-q22.33 microdeletion syndorme TGFBR1 /multiple 9q22.33 Loss
Loeys-Dietz syndrome, type 1A (LDS1A) 609192 TGFBR1 9q22.33
( aortic aneurysm syndrome ) Loss
XY sex-reversal, +/- adrenal failure 184757 NR5A1 9q33.3 Loss
Nail-patella syndrome 161200 LMX1B 9q33.3 Loss
Tuberous sclerosis 1 191100 TSC1 9q34.13 Loss
9q34.3 deletion syndrome 610253 EHMT1 (candidate) 9q34.3 Loss
Hypoparathyroidism, sensorineural deafness and 146255 GATA3 10p14
renal disease (HDR) Loss
DiGeorge syndrome 2 (DGS2) 601362 multiple 10p14-p13 Loss
10q22.3-q23.31 Loss
10q22.3-q23.31 Microdeletion syndrome 174900 multiple 10q23.2 Loss
Juvenile polyposis (JPS), BMPR1A-related 158350 BMPR1A 10q23.31 Loss
PTEN hamartoma tumor 153480 PTEN 10q23.31 Loss
Bannayan-Riley-Ruvalcaba Syndrome (BRRS) 158350 PTEN 10q23.31 Gain
Cowden Syndrome 600095 PTEN 10q24.3 Loss
Split-hand/split-foot malformation (SHFM3) 609625 FBXW4 10q26.2 Gain
10q26 deletion syndrome 130650 ADRB1, CTBP2 11p15.5-p15.4 Loss
Beckwith-Wiedemann syndrome 606528 H19, LIT1, IGF2, 11p15.1 Loss
194072 USH1C, ABCC8 11p14.2-p13
Infantile hyperinsulinism with enteropathy & deafness PAX6, WT1 Loss
Wilms tumor, aniridia, genitourinary anomalies mental 194070 Loss
and mental retardation syndrome (WAGR) 106210 WT1 11p13 Loss
Wilms tumor 1 (WT1, Nephroblastoma) 601224 PAX6 11p13 Loss
Aniridia (AN) 166750 ALX4, EXT2 11p11.2 Loss
Potocki-Shaffer Syndrome 270400 FGF3 11q13.3 Loss
Oto-dental 147791 DHCR7 11q13.4 Gain
Smith-Lemli-Opitz (SLOS) 601803 multiple 11q23.3-11qter Loss
Jacobsen syndrome/11q terminal deletion disorder 108300 multiple i(12)(p10) Loss
Pallister-Killian Syndrome 600376 COL2A1 12q13.11-q13.2 Loss
Stickler syndrome, Type 1 (STL1) ACVRL1 12q13.13 Loss
Hereditary hemorrhagic telangiectasia, type 2 166700 12q14.3
12q14.1-q15 Microdeletion LEMD3, GRIP1 (candidate) 12q14.3 Loss
Buschke-Ollendorff syndrome/osteopoikilosis, 181450 Loss
short stature and mental retardation 142900 LEMD3 Loss/Gain
Ulnar-mammary 163950 Gain
Holt-Oram TBX3 12q24.21 Loss
Noonan syndrome 1 (NS1) 220290 TBX5 12q24.1 Loss
12q24.21-12q24.23 microduplication 180200 PTPN11 12q24.13 Loss/Gain
609637 THRAP2, NOS1, RFC5 12q24.21-q24.23 Loss
Neurosensory deafness, autosomal recessive (DFNB1) GJB6 13q12.11
Retinoblastoma with mental retardation syndrome RB1 13q14.2
Holoprosencephaly 5 (HPE5) ZIC2 13q32.3
13q33q34 deletion syndrome EFNB2, ARHGEF7 13q33.3-q34

14q11.2 deletion syndrome 609408 SUPT16H, CHD8 14q11.2 Loss
Holoprosencephaly 8 (HPE8) multiple 14q13.1-q13.2 Loss
14q22-q23 microdeletion syndrome 607932 multiple 14q22-q23 Loss
Microphthalmia syndrome 6 (MCOPS6)/pituitary BMP4 14q22.2 Loss
hypoplasia, anophthalmia, brain/digital anomalies 176270
Prader-Willi syndrome (PWS) PWS-SRO, SNRPN, 15q11.2-q12 Loss
105830
Angelman syndrome (AS) 608636 snoRNAs cluster 15q11.2-q12 Loss
Chromosome 15q11-q13 duplication syndrome UBE3A, AS-SRO 15q11.2-q14 Gain
612001 UBE3A, GABRB3,
15q13.3 microdeletion syndrome 611102 GABRB4, GABRG3 15q13.3 Loss
Sensorineural deafness and male infertility 154700 multiple/CHRNA7 15q15.3 Loss
Marfan syndrome 1 (MFS1) STRC, CATSPER2 15q21.1 Loss
15q24 deletion Syndrome 142340 FBN1 15q24.1 Loss
Congenital diaphragmatic hernia 1 (CDH 1) PML 15q26.1-q26.2 Loss
15q26.3 deletion syndrome/severe intrauterine 180849 CHD2, NR2F2 15q26.2-qter Loss
growth retardation (IUGR) 141750 IGF1R
Rubinstein-Taybi syndrome 601313 Loss
Alpha thalassemia mental retardation (ATR-16) 191092 CREBBP 16p13.3 Loss
Polycystic kidney disease 1 (PKD1 HBA1, HBA2 16p13.3-pter Loss
Tuberous sclerosis 2 (TSC2) 107480 PKD1 16p13.3 Loss
16p13.1 microdeletion/microduplication 611913 TSC2 16p13.3 Loss/Gain
predisposing to autism and /or mental retardation 247200 multiple 16p13.1
16p11.2-p12.2 microdeletion syndrome 607432 Loss
Townes-Brocks syndrome 1 219800 SALL1, ZNF423 16p11.2-p12.2 Loss
16p11.2 microdeletion , susceptible to Autism 14 151623 Loss/Gain
Miller-Dieker syndrome (MDLS) 610883 SALL1 16q12.1 Loss
Lissencephaly 1 182290 Loss
Nephropathic cystinosis 162200 multiple 16p11.2 Loss
Li-Fraumeni syndrome 1 (LFS) 137920 Loss
Potocki-Lupski syndrome (PTLS) 610443 LIS1, YWHAE 17p13.3 Gain
Smith-Magenis syndrome (SMS) 114290 Loss
NF1 Microdeletion syndrome 142946 PAFAH1B1 (LIS1) 17p13.3 Loss
Renal cysts and diabetes syndrome (RCAD, MODY5) 610954 Loss/Gain
17q21.31 microdeletion syndrome 174900 CTNS 17p13.3 Loss
Campomelic dysplasia/sex reversal 601808 Loss
Holoprosencephaly 4 (HPE4) 175200 TP53 17p13.1 Loss
Pitt-Hopkins syndrome 118450 Loss
Juvenile polyposis (JPS), SMAD4-related 607323 RAI1 17p11.2 Loss
18q deletion syndrome 190685 Loss
Peutz-Jeghers syndrome (PJS) 236100 RAI1 17p11.2 Loss
Alagille syndrome 1 ( ALGS1) 115470 Loss
Okihiro syndrome 188400 NF1 17q11.2 Loss
Down syndrome critical region (DSCR) 608363 Gain
Holoprosencephaly 1 (HPE1) 611867 TCF2 (aka HNF1B) 17q12 Loss
Cat eye syndrome 606232 Gain
DiGeorge/velocardiofacial syndrome ( DGS1) 308100 MAPT,CRHR1 17q21.31 Loss
22q11 duplication syndrome 309801 Gain
22q11.2 distal microdeletion syndrome 300143 SOX9 17q24.3 Loss/Gain
22q13.3 deletion syndrome 307030 Loss
Steroid sulfatase deficiency TGIF 18p11.3 Loss
Microphthalmia 7 with linear skin defects 300200 Loss
XLMR; MRX21 , MRX34 300018 TCF4 18q21.1 Loss
Complex glycerol kinase deficiency (Xp21 Loss
contiguous gene syndrome) 311250 SMAD4 18q21.2
Adrenal hypoplasia congenita (AHC) 314850 Loss
Dosage-sensitive sex reversal MBP, DCC 18q21.2-qter Gain
Xp11.4-p21.2 Contiguous gene deletion Loss
STK11 19p13.3
Ornithine transcarbamylase deficiency Loss
McLeod syndrome JAG1 20p12.2 Loss

SALL4 20q13.2

multiple 21q22.13-q22.2

TMEM1 (aka TRAPPC10) 21q22.3

CECR1, CECR5, CECR6 inv dup(22)(q11)

TBX1, GNB1L 22q11.2

multiple 22q11.2

multiple 22q11.2

SHANK3 candidate 22q13.33

STS Xp22.31

multiple Xp22.2

IL1RAPL1 Xp21.3-p22.1

NR0B1, GK, DMD Xp21.2-p21.3

NR0B1 Xp21.2
NR0B1 Xp21.2
multiple Xp11.4-p21.2

I L1RAPL1 (OTC candidate) Xp21.1
Xp21.1
OTC
XK

X-linked mental retardation (XLMR), microcephaly 300749 CASK Xp11.4 Loss

with pontine and cerebellar hypoplasia Loss
Loss
X-linked chronic granulomatous disease 306400 CYBB Xp11.4
Loss
Chromosome Xp11.3 deletion syndrome 300578 RP2 Xp11.3 Loss
Gain
(XMR, with retinitis pigmentosa) Loss
Loss
XLMR, MRX92 300573 ZNF674 Xp11.3 Gain
Loss
Focal Dermal Hypoplasia; FDH (GOLTZ Syndrome) 305600 PORCN Xp11.23 Loss
Loss
XLMR; MRX17, MRX31 300705 HSD17B10, HUWE1 Xp11.2 Gain
Loss
Androgen insensitivity syndrome 300068 AR Xq12 Loss
Loss
Craniofrontonasal syndrome 304110 EFNB1 Xq13.1 Loss
Loss
Menkes syndrome 309400 ATP7A Xq21.1 Loss
Loss
Choroideremia 303100 CHM Xq21.2 Loss
Gain
X-linked agammaglobulinemia 300750 BTK Xq22.1
Loss
Mohr-Tranebjaerg syndrome 304700 TIMM8A Xq22.1 Loss
Loss
Pelizaeus-Merzbacher disease (PMD) 312080 PLP1 Xq22.2 Gain

X-linked Alport plus diffuse leiomyomatosis (ATS-DL) 301050 COL4A5, COL4A6 Xq22.3

X-linked Alport syndrome 301050 COL4A5 Xq22.3

X-linked lissencephaly syndrome (LISX) 300067 DCX Xq22.3

X-linked lymphoproliferative syndrome (XLP1) 308240 SH2D1A Xq25

Lowe syndrome 309000 OCRL Xq25

Simpson-Golabi-Behmel syndrome (SGBS) 312870 GPC3 Xq26.2

Hemophilia B 306900 F9 Xq27.1

X-linked heterotaxy, visceral, 1 (HTX1) 306955 ZIC3 Xq26.3

X-linked mental retardation with isolated growth 300123 SOX3 Xq27.1

hormone deficiency

Fragile X mental retardation syndrome 300624 FMR1 Xq27.3

X-linked hydrocephalus and nephrogenic diabetes L1CAM. AVPR2 Xq28

Hemophilia A 306700 F8 Xq28

LUBS XLMR Syndrome; MRXSL/(MECP2 300260 MECP2 Xq28

duplication Syndrome)

All 41 unique subtelomeric regions 41 regions

All 48 unique pericentromeric regions 48 regions

Aneuploidy for 24 chromosomes 24 chr.

ALL POSITIVE RESULTS WILL BE CONFIRMED USING FLUORESCENSE IN SITU HYBRIDIZATION (FISH)