Table 1 Comparison of present patient phenotype with that of interstitial deletions of chromosome 1p
Respiratory | Cardiovascular | Ear, nose, throat | Gastrointestinal | Infectious diseases | Endocrinology | Nephrology | Ophthalmology | Neurology | Musculoskeletal, skin | Genital anomalies | Genetics | Methods | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Present patient | Respiratory distress | Pulmonary hypertension, patent foramen ovale | Broad and depressed nasal root, bulbous tip, anteverted nares, prominent columella, long and hypoplastic philtrum; thin lips with “M” shaped mouth, cleft palate, incisions of the upper gingival mucosa, microretrognathia; cupped and small ears (with low-set of the left one) with thick helix, bilateral moderate sensorineural hypoacusis | Hypertrophy of the left hepatic segments, dysmorphic gallbladder | No infection diagnosed | No hormonal defects | No urinary tract abnormalities | Hypotelorism, bilateral microphthalmia, convergent strabismus, epicanthal folds, narrow and down slanting palpebral fissures, bilateral coloboma of iris and optic nerve, arteriovenous shunts of the retinal vessels | Severe global developmental delay, isolated moderate widening of the III ventricle, kinked corpus callosum | High forehead, frontal bossing, brachycephaly with flattened occiput, round face, pectus excavatum, widely spaced nipples, bilateral adducted thumbs, talipes calcaneovalgus and crowded toes (broad first, proximal position of the second and clinodactyly of the fourth and fifth ones) with nail dysplasia | No abnormalities | 1p31.3-p22.2 deletion of 20.7 Mb (from 67,721,572 to 88,415,438), inherited from the healthy mother, carrier of a smaller (2.6 Mb) deletion within the same rearrangement of the daughter (1p22.3p22.2) and with overlapping centromeric breakpoint (from 85,869,876 to 88,477,895), in addition to a translocation t(4;1)(q35;p31.1p31.1) | aCGH |
Yieh et al., 2019 [13] Twin A | Abnormal lobation of lungs (right lung with 1 fissure, left lung with no fissures) | Cardiomegaly, 2 midmuscular ventricular septal defects, high ostium secundum atrial septal defect, patent ductus arteriosus | Macroglossia, cleft palate, microretrognathia, low set ears, anteverted nostrils | Meconium plugs, surgical necrotizing enterocolitis, hypoplastic spleen No congenital heart malformations | No infection diagnosed | Hypoplastic adrenal glands, presumed cortisol deficiency | Bilateral simple cysts, salt‐wasting nephropathy, hypercalciuria, hematuria | Right eye optic nerve and retinal coloboma | Corpus callosum dysgenesis, ventriculomegaly, cortical or subcortical calcifications within the right frontal and parietal lobes, possible tethered spinal cord | Abnormal skeletal proportions with smaller than expected crown‐rump and crown‐heel length, small hand length, asymmetric clefts within the right aspects of the S3 and S4 vertebral bodies, widely spaced nipples, bifid left hand 5th digit | No abnormalities | 1p22.2-p32.2 deletion of 31.67 Mb | SNP-microarray |
Yieh et al., 2019 [13] Twin B | Chronic lung disease, concern for airway malformation | Multiple small midanterior muscular ventricular septal defects, patent ductus arteriosus, pulmonary hypertension, ostium secundum ASD | Macroglossia, retroflexed epiglottis, retrodisplaced base of tongue, cleft of hard and soft palate, retrognathia, low set ears | Suspected Hirschsprung's disease, surgical necrotizing enterocolitis | Enterobacter pyelonephritis, MDR E. coli pyelonephritis | Low vitamin D, hypocalcemia, normal ACTH stimulation test | Bilateral simple cysts, salt‐wasting nephropathy, nephrocalcinosis, hematuria | Pale, hypoplastic optic nerves | Macrocephaly, ventriculomegaly, agenesis of the corpus callosum, subcortical punctate calcifications, diffusely abnormal gyral pattern, hypoplastic chiasm, tethered spinal cord, bilateral grade 3/4 IVH | Widely spaced nipples, shortened humeri, triphalangeal right 1st digit | No abnormalities | 1p22.2-p32.2 deletion of 31.66 Mb | SNP-microarray |
Rivera-Pedroza et al., 2017 [5] | No respiratory problems | No congenital heart malformations | Cleft palate, low-set ears, micrognathia | No gastrointestinal anomalies | Respiratory tract infection | No hormonal defects | Bilateral hypoplasia with abnormal cortical echogenicity and altered corticomedullary differentiation | Hypotelorism and severe exophthalmos, absence of eyelids, ectopia lentis, sclerocornea | Biventricular enlargement, collapse of the third and fourth ventricles, small posterior fossa, focal intracerebral hemorrhage in the left temporal lobe, obstructive hydrocephalus with enlargement of temporal regions | Prominent midfrontal line, cloverleaf skull, cutis laxa | No abnormalities | 1p31.1-p31.3 deletion of 18.6 Mb (63,871,758– 82,484,133) | SNP-microarray and MLPA |
Thakur et al., 2017 [23] | Respiratory Distress | Patent foramen ovale | Flat nasal bridge with anteverted nostrils; small, low-set, posteriorly rotated ears with overfolded helices; long philtrum, micrognathia, high arched palate Severe bilateral sensorineural hearing loss | No gastrointestinal anomalies | No infection diagnosed | Hypopituitarism | No abnormalities | Hypotelorism, almond-shaped eyes, infraorbital creases | Absence of the septum pellucidum, mild lobularity of the medial cortical surfaces, ventricular enlargement, several periventricular cystic areas, diminutive sella, ectopic posterior pituitary gland, nonvisualization of the anterior pituitary gland, hypoplastic corpus callosum, global developmental delay | Trigonocephaly with a prominent brow and metopic ridge; widely spaced, hypoplastic nipples, clenched hands with deep palmar creases and long-appearing fingers; fifth digit clinodactyly of both feet, sacral dimple | Small scrotum and phallus; unilateral cryptorchidism | 1p31.1-p31.3 deletion of 8.04 Mb | SNP-microarray |
Labonne et al., 2016 [21] | No respiratory problems | No congenital heart malformations | Macrocephaly, prominent forehead, frontal bossing, low-set ears, narrow nose and thin lips | No gastrointestinal anomalies | No infection diagnosed | No hormonal defects | No abnormalities | No anomalies | Developmental delay, intellectual disability, subarachnoid intraventricular hemorrhage with layering in the posterior fossa, right anterior communicating artery aneurysm, ADHD | No anomalies | No abnormalities | 1p31.3-p32.2 deletion of 9.45 Mb (57,633,718- 67,087,056) | microarray |