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Table 1 Summary of clinical and molecular features of previously reported patients with constitutional 9q22 deletions and the present ones.

From: 9q22 Deletion - First Familial Case

Reference Patient's age and gender Postnatal height Postnatal OFC CNS features Malformations Dysmorphic features Clinical Gorlin syndrome Method of detection Locus of the deletion Parental origin and/or Parental chromosomal rearrangement Size of deletion PTCH1 ROR2
[28] 1y11m male + 3,8SD > p 90 global delay
hypotonia
no falx calcification
right hydronephrosis
left multicystic kidney
left hand preaxial polydactyly
hypertelorism
frontal bossing
epicanthi
low nasal bridge
low-set ears
auricular pits
long philtrum
high palate
short, webbed neck
sacral dimple
with reservations to young age aCGH (Agilent 180 chip) and FISH 9q22.3 de novo   2,44 Mb deleted nr
[14] 2 y 3 m male > p97 p75-97 moderate MR,
wide cranial sutures,
open posterior fontanelle
submucous cleft palate,
pectus excavatum
epicanthic folds,
wide and short neck,
low nuchal hairline,
wide nasal bridge,
low-set and posteriorly rotated ears,
micrognathia, widely spaced nipples,
small teeth,
deep plantar grooves
with reservations to young age aCGH at 1 Mb resolution 9q22.32q31.1 de novo   6,54-8,12 Mb deleted nr
[5] 3 y 9 m female +2,2SD +3,5SD normal development, hypotonia, spasticity, cleft lip-palate,
pigmented cyst on shoulder (ectopic meninx)
ASD
frontal bossing
epicanthic folds, broad eyebrows, synophrys,
c-a-l spot on legs and arm
yes
palmar & plantar pits
aCGH (Agilent 105A chip) 9q22.32 de novo paternal 2.3 Mb deleted nr
[26, patient 1] 12 y male -1,1SD +1,7SD moderate MR,
seizures/epilepsy
  epicanthi
mouth small
upper lip thin
strabismus
yes
falx calcification,
frontal ganglioglioma, rib anomalies, odontogenic ceratocysts, palmar and plantar pits
FISH with BAC clones 9q21.33q22.33 de novo   15,33-16,04 Mb deleted nr
[26, patient 2] 23 y male +1,9SD +2,6SD severe MR, seizures,
trigonocephaly, craniosynostosis,
cleft lip-palate
retinal detachement, cataract, glaucoma
double urethra
hypertelorism yes
odonto-genic ceratocysts,
thyroid adenocarcinoma
FISH with BAC clones 9q21.33q31.1 de novo   18,08-18,54 Mb deleted nr
[27, restudy of patient 1 originally presented in 33] 50 y female normal macrocephaly mild MR,
hypotonia,
"rib and bone anomalies"
kidney problems, one eye blind
frontal bossing,
palpebral fissures slant down,
epicanthi,
maxillary prognatism,,
dense eyebrows,
dental anomalies,
delayed dental eruption
yes
basocellular carcinomas,
jaw cysts, intracranial calcification, palmoplantar pits
quantitative multiplex fluorescent PCR, polymorphic markers, long-range PCR, sequencing 9q22.32q22.33 de novo   4,5 Mb deleted nr
[25, patient G10] 8 y male nr nr severe MR,
epilepsy, hydrocephalus
inguinal hernia,
polydactyly
scoliosis
hypertelorism yes
palmar & plantar pits
HR microarray inv(9)(q21.2q33.1) = 9q22.32 92,934,973/92,945,040-98,137,216/98,141,889   5 Mb deleted nr
[16, patient G5, restudy of patient originally presented in 34] 12 y male nr >p97 severe MR, epilepsy,
dilated lateral ventricles,
thin corpus callosum, hydrocephalus
hydronephrosis, scoliosis hypertelorism
epicanthi
webbed neck
yes
basal cell carcinoma,
palmar and plantar pits,
multiple jaw cysts
odonto-genic ceratocysts, calcification of falx and tentorium cerebelli
HR microarray 9q21.31q22.31 de novo 88,656,506/88,656,835-99,686,554/99,687,352   11 Mb deleted deleted
[17] 12 y female nr normal severe MR, brain atrophy laryngeal stenosis, pulmonary valve stenosi, pectus excavatum, kyphoscoliosis, hypoplastic clavicles down-slanting palpebral fissures,
epicanthi, prognatism,
asymmetric palpebral fissures,
broad eyebrows,
synophrys
high forehead,
pointed chin
short neck,
c-a-l-spots
yes aCGH 9q22.1q22.32 de novo   7,7 Mb deleted deleted
[6] 13 y female nr nr MR,
ventriculomegaly
mild macroglossia hypertelosim,
frontal bossing,
epicanthi,
ears posteriorly rotated,
teeth small,
prominent gingivae,
toenails hypoplastic,
mild hemihypertrophy
yes
mandibular cysts, plantar and palmar spots,
rhabdomyosarcoma,
Wilms tumor
karyotype,polymorphic markers at the PTCH1 region 9q22q32 de novo paternal nr deleted nr
[7, patient 1] 5 y male +2,5SD +2SD severe MR umbilical hernia,
pectus excavatum, trigonocephaly- craniosynostosis
epicanthi
mouth small
upper lip thin
ear pits
ears low set
ear lobules uplifted hyperlaxity,
short neck,
with reservations to young age aCGH at 1 Mb resolution 9q22.32q22.33 de novo paternal < 6,5 Mb not tested nr
[7, patient 2] 8 y female +2SD >+3SD severe MR, seizures
trigonocephaly
ventriculomegaly
thin corpus callosum
thyroglossal cyst with sternal fistula,
no dentition,
umbilical hernia,
pectus excavatum, kyphosis
epicanthi,
palpebral fissures slant down,
small mouth,
thin upper lip,
thick ears
indentation of ear lobules.
short neck
with reservations to young age aCGH at 1 Mb resolution 9q22.32q22.33 de novo paternal < 6,5 Mb not tested nr
[27] 5 m male p75-90 p90-97 MR, hypotonia
seizures
hydfrocephalus caused by compression by
cerebellar vermis
inguinal hernias,
PDA,
undescended testes,
high arched palate, postaxial polydactyly of left foot,
cervical ribs
hypertelorism, prognatism,
broad face and
forehead, broad
nasal bridge,
supraorbital ridges well developed
yes HR karyotype, aCGH, FISH 9q22.32q31.3 de novo paternal 12 Mb deleted nr
[15] 21 y male +0,2SD -1SD mild MR kyphosis, postaxial polydactyly,
mild pulmonary valve stenosis, inguinal hernias, undescended testes, hypodontia of permanent teeth, palate high arched,
uvula bifid, bilateral
nasal stenosis,
taurodonty of 2nd molars
frontal bossing
epicanthi,
palperbral fissures slant down, prognatism, synophrys, hypotelorism, excess nuchal skin,
ears low-set and posteriorly rotated, nares anteverted,
lips thick,
face high
yes
calcification of cella turgica and falx cerebri, basal cell nevus carcinomas,
jaw cysts
HR karyotype, FISH with BAC clones 9q21.3q31 de novo   15.3-15.6 MB deleted deleted
[32] 29 y female short nr   poor vision,
telangiectatic nodule on skin
hemivertebra T5,
scoliosis,
elongated clavicle
hypotelorism,
ulnar deviation of hands
yes
multiple basaliomas,
calcification of falx, tentorium cerebri and cella turcica, mandibular cysts
karyotype 9q22.1q31.2 parents not available nr assumed deleted nr
[4] 12 y female nr nr mild MR,
bridging of cella turcica, broad cavum septi pellucid, dilated cerebral ventricles
hyperopia, deverticulum of the renal calyx, occult spina bifida L5-S4, pectus excavatum,
bilateral patellar dysplasia, unsual clavicles, exostosis of distal phalanx of thumb
thumbs, abnormal hypoplasia of maxilla
hypertelorism, biparietal bossing, epicanthi, palpebral fissures slant down, prognatism, synophrys,
webbed neck,
synophrys and broad eyebrows,
low midface,
broad nose tip,
low set, posteriorly rotated ears
yes
basalioma
basal cell nevi
trichoepithelioma
HR karyotype, FISH 9q22.32q33.2 de novo outside the maternal translocation familial t(9;17)(q34.1p11.2)mat nr deleted nr
[30, patient A] age nr, female nr nr MR    nr karyotype, aCGH 9q21q22.1   nr nr deleted
[30, patient B] age nr, female nr nr MR    nr karyotype, aCGH 9q22.1q31.2   nr nr deleted
[8] 6 y male p50 >p97 severe MR
hypotony
PDA, severe scoliosis, fingers slender, 5th finger camptodactyly, palate high arched, short metacarpals and distal phalanges frontal bossing,
epicanthi,
palpebral fissures slant down,
ears low-set,
hypoplastic nostrils,
micrognarhia,
small nails
with reservations to young age
increasing nr of nevi,
sole pits
HR karyotype, FISH, genotyping 9q22.31q31.2 de novo paternal D9S303 ->D9S930 deleted deleted
[3, patient 1] 15 y female <p3 p75 MR, hydrocephalus with shunt, corpus callosum agenesis inguinal hernias,
bilateral conductive hearing loss, ectopic eruption of incisors,
occult spina bifida T2-T3, scoliosis
frontal bossing, synophrys,
prognathism
yes
palmoplantar pits, bifid ribs
HR karyotype, RLFP polymorphisms 9q22q22 de novo paternal 10-16 cM deleleted deleted
[3, patient 2] 26 y female short microcephaly MR PDA, CoA, anomalous right subclavian artery,
bilat conductive hearing loss
frontal bossing, hypertelorism, prognatism, prominent supraorbital ridges,
high palate
yes
multiple basal cell carcinomas, leiomyoma coli,
multiple bifid ribs
odontogenic ceratocysts,
ameloblastoma
HR karyotype, RLFP polymorphisms FISH 9q22q32 de novo maternal t(ins[9][p22q32q22];16)(p22;q21) mat 22-39 cM deleted deleted
[9] 14 y male <p3 <p3 severe MR
brachycephaly, dilated ventricles
undescended testes,
left pes equinovarus,
I partial I-IV toe syndactyly,
frontal bossing, hyperteloris,
epicanthi,
palpebral fissures slant down, broad eyebrows, wide mouth, thick lips, irregular dentition,
ears small, no ear lobes,
short neck, wide internipple distance, hypoplastic genitalia,
tapering fingers, small toes, medial deviation of toes
nr karyotype 9q22q32 de novo maternal nr nr nr
[21] 15 m male p25 p75 severe MR,
partial aplasia of corpus callosum,
dilatation of ventricles
laryngomalacia,
cleft palate,
PDA, abnormal aortic valve,
epiglottic dysplasia,
abnormal vocal cords
frontal bossing, palpebral fissures slant down, hypertrichosis, long eyelashes,
epicanthus inversus,
nose short, brodge depressed, nares upturned,
long philtrum,
small mouth, thin upper lip,
receding chin,
ears large and low set,
large lobules,
loose skin on cheeks
nr karyotype (500 bands) 9q22q2207 de novo   nr nr nr
[2, patient 3] 7 m female p90 p75 mild to moderate MR,
brachycephaly,
hydrocephalus
VSD,
PDA hallux valgus
hypertelorism,epicanthi,
synophrys,
ptosis,
philtrum short ears posteriorly rotated
nr HR karyotype 9q22.3q31.1 de novo paternal dir ins(4;9)(q33;q22.3q31.1) pat nr nr nr
[35] infant male nr nr asymmetric ventricles, partial fusion of cerebellar hemispheres, polymicrogyria, delayed cerebellar neuronal migration, enlarged massa intermedia cryptorchidism, focal glomerulosclerosis, accessory spleen, partial fusion of vertebrae D2 and D3, pectus excavatum,
irregular ribs
interphalangeal ankylosis
  nr karyotype 9q22q32 de novo   nr nr nr
[10] 3 m male nr nr death at 3 months, seizures duodenal atresia, malrotation,
Meckel diverticulum, multilobulated spleen, accessory spleens
renal dysplasia,
hydroureter
polydactyly of hand, syndactyly of feet
angulated clavicles
thorax asymmetric
palpebral fissures slant down, epicanthi, hypotelorism, hirsutism, short palpebral, fissures, depressed nasal bridge,
auditory canals narrow,
philtrum long
nr
unusual ribs,
karyotype, Q, C and R bands 9q22q32 de novo maternal nr nr nr
[1, patient 1] 14 y male -1SD 0SD severe MR,
epilepsy
  hypertelorism,
palpebral fissures slant down, nose short, nares anteverted,
philtrum long, mild micrognathia
nr karyotype with R bands 9q11q22 de novo   nr nr nr
Present case 3 37 y male -1SD -0,25SD normal cognition,
dysarthria
grade IV vesicoureteral reflux, hydroureter and hypoplastic left kidney. funnel chest, three lower-most costal cartilages broadly fused deepset and small toenails, palpebral fissures slant down, high bridged nose, narrow nares, long deep furrowed philtrum, ears with broad helices and uplifted lobuli, short 2nd finger nails no aCGH 9q22.2q22.31 de novo   5,3Mb not deleted deleted
Present case 1 8,5 y female 0,1SD +0,5SD moderate MR,
dysarthria
  short neck, slight ptosis on the right, downward slant of the palpebral fissures, narrow nose, small nares, long philtrum with a narrow deep groove, tented upper lip, ears with broad helices and uplifted lobuli. toe nails II-V bilaterally small no aCGH 9q22.2q22.31 paternal 5,3 Mb not deleted deleted
Present case 2 4 y female -0,2SD +1SD moderate MR,
dysarthria
  down slanting palpebral fissures, mild left side ptosis, narrow nares, uplifted ear lobuli and thick helices, long philtrum with a deep furrow, thin and tented upper lip. no aCGH 9q22.2q22.31 paternal 5,3Mb not deleted deleted
  1. All values given as reported in each original paper.
  2. Abbreviations: nr = no report, y = year, m = month, OFC = head circumference; CNS = central nervous system; MR = mental retardation; p = percentile; SD = standard deviation, aCGH = array comparative genomic hybridization, HR = high resolution.