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Table 1 Comparison of present patient phenotype with that of interstitial deletions of chromosome 1p

From: Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

  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
Bilateral simple cysts, salt‐wasting nephropathy, hypercalciuria,
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
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
Enterobacter pyelonephritis, MDR E. coli pyelonephritis Low vitamin D, hypocalcemia, normal ACTH stimulation test Bilateral simple cysts, salt‐wasting nephropathy, nephrocalcinosis,
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,
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–
SNP-microarray and MLPA
Thakur et al., 2017 [23] Respiratory
Patent foramen ovale Flat nasal bridge with anteverted nostrils; small, low-set, posteriorly
rotated ears with overfolded helices; long philtrum, micrognathia, high arched
Severe bilateral sensorineural hearing loss
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
Labonne et al., 2016 [21] No respiratory problems No congenital heart malformations Macrocephaly, prominent forehead, frontal bossing,
low-set ears,
narrow nose and thin
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)
  1. aCGH array comparative genomic hybridization, ADHD attention deficit hyperactivity disorder, ASD atrial septal defect, FISH fluorescence in situ hybridization, IVH intraventricular hemorrhage, MDR multidrug resistant, MLPA multiplex ligation-dependent probe amplification, SNP single nucleotide polymorphism