(American Journal of Human Genetics 82, 712–722; March 2008)
In the version of this paper originally published online March 6, 2008, the karyotypes listed in column 3 (heading: Karyotype) for the following cases contained errors: DGAP006, 012, 090, 100, 112, 123, 127, 128, 137, 157, 159, 166, 169, and 174. The corrected table appears below. The authors regret the errors.
Table 1.
Phenotype and Karyotype of Selected DGAP Cases
| Case No. | Phenotype | Karyotype | Publication |
|---|---|---|---|
| DGAP003 | Delayed dentition, gingival hyperplasia, hirsutism, large facial bones and mandibles, large ears, a markedly enlarged nose with short columella nasi and saddle deformity, depressed nasal bridge, hypertelorism with bilateral convergent strabismus, epicanthal folds, protruding upper lip, hypertrophic papillae on the posterior of the tongue, bilateral spade-like fingers, skin thickening on the legs, dysmorphic skeletal features | 46,XY,t(3;17)(p14.3;q24.3)dn | 21, 33 |
| DGAP006 | Mental retardation, developmental delay, absent speech, aggressive behavior, frontal bossing, epicanthal folds, left eye ptosis, low-set ears, no binocular fixation searching movements | 46,XX,t(1;2)(p32;q13)dn | |
| DGAP009 | Mental retardation, eye anomaly, other multiple congenital anomalies | 46,XY,t(1;8)(p34;q22)dn | |
| DGAP011 | Kallmann syndrome (atrophic testes, azoospermia, cleft lip and palate) | 46,XY,t(7;8)(p12.3;p11.2)dn | 2 |
| DGAP012 | Developmental delay, digitalized thumbs, brachycephaly, microcephaly, small down-turned mouth, mild midfacial hypoplasia, flat mid-face, narrow nasal bridge, very small nose, large ears, bilateral epiblepharon without trichiasis, small hands and feet, absence of emotional expression, hand flapping, early feeding problems | 46,XY,t(11;19)(p11.2;p13.3)dn | |
| DGAP015 | Bannayan-Riley-Ruvalcaba syndrome, malignant intracranial hCG-secreting tumor causing precocious puberty | 46,XY,t(10;13)(q23.3;q33)dn | |
| DGAP016 | Hypoplastic testes | 46,XY,t(8;10)(p11.2;p13)dn | |
| DGAP018 | Bilateral osseocutaneous syndactyly of the 3rd, 4th, and 5th fingers; hypotonia; macrocephaly; forehead and occipital prominence; left inner thigh hemangioma; developmental delay | 46,XX,?dup(2)(p14p?21),ins(2;1)(?p13;p21p31),ins(3;2)(q23;p14p?21)dn | |
| DGAP020 | Sex reversal, gonadoblastoma, streak gonad, amenorrhea | 46,X,t(Y;17)(q11;p13)dn | |
| DGAP025 | Developmental delay, scoliosis, syndactyly of toes, learning problems, masculinized face, hirsutism | 46,X,t(X;15)(p22;q26)dn | |
| DGAP032 | Kallmann syndrome (hypogonadotropic hypogonadism, and anosmia), skeletal anomalies, mental retardation | 46,XY,t(7;12)(q21.13;q24)dn | |
| DGAP089 | Subarachnoid hemorrhage, ventriculomegaly, underdeveloped corpus callosum, tonic-clonic seizure, severe delays in growth and development, craniofacial disproportion and dysmorphism, right cryptorchidism, hypotonia, chronic intestinal obstruction | 46,XY,t(1;2)(p31.3;q22.1),del(2)(q14.3q21)dn | 23 |
| DGAP090 | Sensorineural hearing loss, Mondini defect, avascular necrosis of the left femoral head, dermal telangiectasias with ulceration, juvenile rheumatoid arthritis | 46,XY,t(8;9)(q13;p22),t(9;11)(q33;q13)mat | 34 |
| DGAP095 | Seizures, developmental delay, infantile hypotonia, obesity, livedo reticularis | 46,X,t(X;2)(p11.2;q37)dn | 32 |
| DGAP097 | Developmental delay, infantile spasms, hypotonia, mental retardation, behavioral problems, facial dysmorphism, myopia, patchy skin hypopigmentation | 46,X,t(X;9)(p22.2;p13)dn | |
| DGAP100 | Mental retardation, severe psychomotor delay, mild ventriculomegaly, failure to thrive, no speech, no ambulation, cleft palate, impaired hearing, bilateral optic nerve hypoplasia, severe myopia, hypoglycemia, mild pectus excavatum, gray teeth with caries | 46,X,t(X;5)(p11.3;q35.2)dn | |
| DGAP101 | Severe mental retardation, no speech, mild dysmorphism, clinodactyly, mild hirsutism | 46,XY,inv(5)(q13q15)dn | |
| DGAP103 | Extreme somatic overgrowth, advanced endochondral bone and dental ages, a cerebellar tumor, multiple lipomas | 46,XY,inv(12)(p11.22q14.3)dn | 3 |
| DGAP104 | Congenital hydrocephalus, abnormal corpus callosum, periventricular calcifications, sacral anomaly, hypoplastic kidneys | 46,XX,t(1;20)(p31.3;q13.31)dn | 23 |
| DGAP105 | Aortic coarctation; bicuspid aortic valve; bilateral cryptorchidism and primary hypospadias; inguinal hernia; widely spaced nipples; short neck; four hair whorls (three posterior and one anterior); down-slanting palpebral fissures; bilateral epicanthal folds; broad nose; smooth philtrum; thin vermilion border; low-set and posteriorly rotated ears with simplified, thickened helices; mild hypertelorism and strabismus; developmental delay | 46,XY,t(1;5)(p35.3;q31.3)dn | |
| DGAP106 | Developmental delay, self-injurious actions and agitation, growth retardation, strabismus, ptosis, normal MRI | 46,XX,t(3;5)(q27;q31.1), t(11;13)(p15.3;q14.1)dn | |
| DGAP107 | Visual defects, limb defects, urinary tract abnormalities, learning disabilities, genital anomalies, neurological and behavioral defects | 46,XY,t(Y;3)(p11.2;p12.3)dn | 20 |
| DGAP112 | Microcephaly, advanced bone age and secondary craniosynostosis, developmental delay, flat nasal bridge, epicanthal folds, strabismus, short philtrum, thin upper lip, two café-au-lait spots, 2nd toes overlap 3rd toes bilaterally, small labia majora, extra creases on right hand, wide thumbs and halluces | 46,XX,t(3;12)(q11.2;q14.1),del(12)(q14q14)dn | |
| DGAP121 | Feeding problems at birth, malformed left ear lobe, epicanthal folds, learning problems, mild hypotonia, mild resolved scoliosis | 46,XX,t(5;13)(q15;q32)dn | |
| DGAP122 | Epicanthal folds; hypertelorism; frontal and posterior cowlick; coarse hair; area of alopecia; history of patchy, intermittent hair loss; partially attached pinnae; mild micrognathia; mild pectus excavatum; soft systolic murmur with normal echocardiogram; developmental delay; renal insufficiency caused by grade II-III hydronephrosis | 46,XY,t(1;9;5)(1pter→1q32::9p22-24::5q15→5qter;9pter→9p24::9p22→9qter;5pter→5q15::1q32→1qter)dn∗ | |
| DGAP123 | Autism | 46,XX,ins(16;2)(q13;p16.1p16.3)pat.ish ins(16;2)(wcp2+;wcp2+) | 36 |
| DGAP127 | Failure to thrive; feeding problems; growth retardation; unexplained weight loss; brachycephaly; flat mid-face; pointed chin; broad, prominent forehead; deeply set eyes; small mouth; frequent episodes of abdominal pain; some difficulties with reflux; kidney stones; developing contractures and spasticity of the ankles, knees, elbows and shoulders; severe developmental delay; very poor eye contact/interaction; self-stimulating episodes; episodic discomfort and agitation with no apparent cause; seizures; muscle biopsy demonstrated partial complex III deficiency | 46,X,t(X;5)(q26.2;q14.3)dn | |
| DGAP128 | Macrocephaly, significant developmental delay, seizures and cerebral atrophy | 46,XX,t(1;3)(q32.1;q25.2)dn | 35 |
| DGAP137 | Mild mental retardation, pigment abnormality, VSD, conductive hearing loss, abnormal thyroid function tests, right eye poor visual acuity (small pit in right optic nerve), bilateral optic nerve colobomas, MRI shows 1.5 cm mass behind right globe (no enhancement), bulbous great toes with convex toenails, ligamentous laxity, easy bruising | 46,XX,der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15),der(13)t(6;13)(q23.3;q22)dn | |
| DGAP139 | Developmental delay; hypotonia; dolicocephaly; frontal upsweep; synophrys; long, straight eyelashes; small nares; pronounced philtral creases; small mouth; flat hemangiomas on back of neck; pectus excavatum; joint hyperextensibility; feet have increased secondary creases on both soles; hands have a right Sydney line | 46,XY,t(7;13)(p15.3;q14.1)dn | |
| DGAP151 | Cleft lip and palate | 46,XX,t(2;8)(q33.1;q24.3)dn | 19 |
| DGAP157 | Global developmental delay, bilateral inguinal hernia, spina bifida occulta, mild dysmorphic features | 46,XY,t(3;10)(p12.3-14;q21)dn | |
| DGAP159 | Growth retardation, brachydactyly, bilateral syndactyly of 2nd and 3rd toes, micrognathia, low-set ears, hypertelorism and single palmar crease, developmental delay, no oral language, some autistic and ADD behaviors, abnormal brain CT (5 months of age), moderate to severe bilateral conductive hearing loss, hypo and hypersensitive to different tactile stimulation, trouble focusing eyes on close objects | 46,XY,t(8;10)(q13;p14)dn | |
| DGAP166 | Seizure disorder, developmental delay, microcephaly, bilateral epicanthal folds, nose upturned with a thin upper lip and upturned corners of the mouth, very mild micrognathia | 46,XX,inv(2)(p22.1q24.3)dn | |
| DGAP167 | Mild developmental delay, vertical talus (rocker-bottom foot deformity), hypotonia | 46,XX,inv(18)(q11.2q23)dn | |
| DGAP169 | Failure to thrive, feeding problems, growth retardation, bilateral microtia with profound sensorineural deafness, fused incus and malleus, incus with absent short process, bilateral Mondini malformation, abnormal cochlear turn, malformation of the semicircular canals, micrognathia, anteriorly displaced larynx, small right kidney with renal cortical thinning, borderline wide interpedicular distance of C-spine (18 mm C7, 15–16 mm C5), developmental delay, abnormal hair distribution with high forehead, benign precocious thelarche at 9 months that resolved by 15 months | 46,XX,inv(5)(q15q33.2),del(5)(q15)dn | |
| DGAP173 | Mild developmental delay; major depression; generalized anxiety; sleep apnea; self-injurious behaviors; agitation; tantrums; overgrowth; male-pattern hirsutism; amenorrhea; impaired glucose tolerance; hypercholesterolemia and hypertriglyceridemia; elevated testosterone; deep voice; history of one seizure at 2 yr of age; eczema; acanthosis nigricans; moles and skin tags; bilateral epicanthal folds; small nose; complex malocclusion; short, hyperkeratotic palms; 5th finger brachydactyly and clinodactyly; right elbow extension limitation; hypoplastic toenails; short feet | 46,XX,t(2;11)(q11.2;p13)dn | |
| DGAP174 | Overgrowth, right-sided hemihypertrophy, small apical VSD and current heart murmur, metopic craniosynostosis and hydrocephalus, Arnold Chiari II malformation, agenesis of the corpus callosum, dysplasia of the left temporal lobe, scoliosis, developmental delay, attention deficit hyperactivity disorder, increased red blood cell size, asthma and seasonal allergies, left inguinal hernia that was surgically repaired, bilateral epicanthal folds, slight occasional esotropia, high-arched palate, left-sided head tilt, unsteady gait and uncoordinated movements with decreased balance | 46,XY,t(1;3)(p31.3;q25.1),del(1)(p31.3p32.1)dn | 23 |
| DGAP190 | Developmental delay, infantile spasms | 46,XX,t(X;8)(p22;p21)dn | |
| DGAP200 | PDD-NOS, ADHD, conduct disorder with early onset, intermittent explosive disorder, obesity | 46,XY,t(1;2)(q31.3;p16.3)dn | 36 |
∗indicates reported karyotype; FISH analyses suggest additional rearrangements that were not characterized further.