Delineation of Syndromes Due to Partial 6q Imbalances. Trisomy 6q21→qter and Monosomy 6q221→qter in Two Unrelated Patients

1978 ◽  
Vol 27 ◽  
pp. 57-66 ◽  
Author(s):  
B. Dallapiccola ◽  
Franca Dagna Bricarelli ◽  
A. Rasore Quartino ◽  
Maria Cristina Mazzilli ◽  
Rosanna Chisci ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Psychomotor Retardation ◽  
Facial Dysmorphism ◽  
Chromosome 6 ◽  
Craniofacial Abnormalities ◽  
Nasal Bridge ◽  
Growth Deficiency ◽  
Biparietal Diameter ◽  
The Face

Two unrelated patients carrying imbalances involving the long arm of chromosome 6 are described. In the first trisomy 6q21→qter had segregated from a maternal translocation t(6 ; 16)(q15 ; q24). The clinical data of the proposita are compared with those of three other published cases. A partial 6q trisomy syndrome is postulated characterized by: growth deficiency of prenatal onset, psychomotor retardation, craniofacial abnormalities (microcephalia, hypertelorism, downward slanting palpebral fissures, flattened nasal bridge, long philtrum, hypoplastic perioral features, large jaw resulting in a round appearance of the face, receding chin, malformed ears) and dysmorphic extremities (contractures of limbs due to short flexor tendons, hypoplastic fingers, toes and nails). In the second case, monosomy 6q221→qter resulted from a de novo rearrangement and was responsible for mental retardation and facial dysmorphism (reduced biparietal diameter, hypotelorism, absent eyebrows, prominent nose, ptosis, receding chin, dysmorphic ears). Studies of HLA and PGM3 segregation showed normal inheritance patterns and ruled out the location of these genes in bands 6q221→qter.

scholarly journals AN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROMEAN OVERVIEW OF LESS KNOWN JACOBSEN SYNDROME

2021 ◽  
Vol 9 (07) ◽  
pp. 947-953
Author(s):  
Sushma Kumari ◽  
◽  
Hanna Hedleen ◽  
Keyword(s):  
De Novo ◽  
Psychomotor Retardation ◽  
Clinical Findings ◽  
Physical Growth ◽  
Facial Dysmorphism ◽  
Chromosome 11 ◽  
Balanced Translocation ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Intellectual Deficit

Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications. Jacobsen syndrome is a contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from 07 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q 23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis.

A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies

2011 ◽  
Vol 54 (1) ◽  
pp. 86-88 ◽  
Author(s):  
Mireille M.L. van Diepen ◽  
Antoinet C.J. Gijsbers ◽  
Cathy A.J. Bosch ◽  
Anne Marie Oudesluys-Murphy ◽  
Claudia A.L. Ruivenkamp ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Facial Dysmorphism ◽  
Speech Delay ◽  
Sleeping Problems

Cornelia De Lange Syndrome in Iraq

2020 ◽  
Vol 2 (02) ◽  
pp. 01-04
Author(s):  
Aamir Mosawi
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
Growth Retardation ◽  
Cornelia De Lange Syndrome ◽  
Facial Dysmorphism ◽  
Upper Lip ◽  
Nasal Bridge ◽  
Short Nose ◽  
Convergent Squint ◽  
Cornelia De Lange

Background: Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of the syndrome is clinical. Ocular abnormalities that can be associated with Cornelia de Lang syndrome squint, nystagmus, refractive errors, and ptosis. Materials and methods: The occurrence of Cornelia de Lange syndrome has not been reported or well-documented. The first four Iraqi patients (Three boys and one girl) with Cornelia de Lange syndrome are described. The relevant literatures were reviewed with aim of determining the early documentation of the syndrome in the medical literatures. Results: All the patients were sporadic cases and had growth retardation, severe mental retardation with significant developmental delay, thick eye brows with some degree of synophrys, short nose with depressed or concave nasal bridge, and low set ears. All the patients had normal karyotype. One male patient had all of the classical features including long smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth. The second male patient had a concave nasal bridge that becomes more obvious during crying, nystagmus and bilateral convergent squint. The third boy had milder dysmorphic features. The fourth patient was a girl who was the second of a twin. She had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint, refractive error, and reduction in visual acuity. Conclusion: The first four Iraqi patients with Cornelia de Lang syndrome are reported.

A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation

2010 ◽  
Vol 152A (9) ◽  
pp. 2376-2378 ◽  
Author(s):  
Ana Cristina V. Krepischi ◽  
Carla Rosenberg ◽  
Silvia S. Costa ◽  
John A. Crolla ◽  
Shuwen Huang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Chromosome 6

scholarly journals A rare case of combined immunodeficiency due to a deletion of 11(q) – Jacobsen syndrome

2020 ◽  
Vol 19 (3) ◽  
pp. 114-120
Author(s):  
N. B. Kuzmenko ◽  
O. A. Shvets ◽  
A. A. Mukhina
Keyword(s):  
Clinical Phenotype ◽  
Psychomotor Retardation ◽  
Physical Growth ◽  
Facial Dysmorphism ◽  
Combined Immunodeficiency ◽  
Chromosome 11 ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Broad Nasal Bridge

Jacobsen syndrome (JS) is a rare combined immunodeficiency caused by partial deletion of the long arm of chromosome 11. Clinical features include physical growth retardation, psychomotor retardation, characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small low set ears). Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Abnormal platelet function and immunological problems are usually present. Here we describe a patient with deletion of 11(q) chromosome resulting in clinical phenotype of the facial dysmorphisms, congenital malformations, neurological symptoms, as well as clinical and laboratory features of immunodeficiency. Features of immune dysregulation in a patient with JS are clearly characterized. Patient's parents agreed to use personal dats and photos in research and publications.

scholarly journals D-DEMØ, a distinct phenotype caused by ATP1A3 mutations

2020 ◽  
Vol 6 (5) ◽  
pp. e466
Author(s):  
Lyndsey Prange ◽  
Milton Pratt ◽  
Kristin Herman ◽  
Raphael Schiffmann ◽  
David M. Mueller ◽  
...  
Keyword(s):  
De Novo ◽  
Brain Mri ◽  
Facial Dysmorphism ◽  
Cerebellar Hypoplasia ◽  
Complex Partial Seizures ◽  
Whole Exome ◽  
Related Phenotype ◽  
The Face ◽  
Underlying Mechanisms ◽  
The Brain

ObjectiveTo describe a phenotype caused by ATP1A3 mutations, which manifests as dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø) (D-DEMØ), and neonatal onset.MethodsReview and analysis of clinical and genetic data.ResultsPatients shared the above traits and had whole-exome sequencing that showed de novo variants of the ATP1A3 gene, predicted to be disease causing and occurring in regions of the protein critical for pump function. Patient 1 (c.1079C>G, p.Thr360Arg), an 8-year-old girl, presented on day 1 of life with episodic dystonia, complex partial seizures, and facial dysmorphism. MRI of the brain revealed cerebellar hypoplasia. Patient 2 (c.420G>T, p.Gln140His), an 18-year-old man, presented on day 1 of life with hypotonia, tremor, and facial dysmorphism. He later developed dystonia. MRI of the brain revealed cerebellar hypoplasia and, later, further cerebellar volume loss (atrophy). Patient 3 (c.974G>A, Gly325Asp), a 13-year-old girl, presented on day 1 of life with tremor, episodic dystonia, and facial dysmorphism. MRI of the brain showed severe cerebellar hypoplasia. Patient 4 (c.971A>G, p.Glu324Gly), a 14-year-old boy, presented on day 1 of life with tremor, hypotonia, dystonia, nystagmus, facial dysmorphism, and later seizures. MRI of the brain revealed moderate cerebellar hypoplasia.ConclusionsD-DEMØ represents an ATP1A3-related phenotype, the observation of which should trigger investigation for ATP1A3 mutations. Our findings, and the presence of multiple distinct ATP1A3-related phenotypes, support the possibility that there are differences in the underlying mechanisms.

The Williams Elfin Facies Syndrome: The Psychological Profile as an Aid in Syndrome Identification

PEDIATRICS ◽  
1978 ◽  
Vol 61 (2) ◽  
pp. 303-306
Author(s):  
Forrest C. Bennett ◽  
Beverly LaVeck ◽  
Clifford J. Sells
Keyword(s):  
Mental Retardation ◽  
Cognitive Abilities ◽  
Congenital Heart ◽  
Motor Coordination ◽  
Mental Deficiency ◽  
Postnatal Growth ◽  
Psychological Profile ◽  
Craniofacial Abnormalities ◽  
Unique Type ◽  
Growth Deficiency

The Williams syndrome is a sporadic disorder generally characterized by a peculiar pattern of craniofacial abnormalities (elfin facies), prenatal and postnatal growth deficiency, mental retardation, variable congenital heart disease (including supravalvular aortic stenosis), and occasionally infantile hypercalcemia.1 Its etiology, pathogenesis, and possible relationship to vitamin D and calcium metabolism have not as yet been determined.2 Previous reports of children with this syndrome make reference to their overall mental retardation as determined by IQ as measured by various psychological tests.1,3 Frequent mention is also made of these children's tendency to an unusual, outgoing personality.1,3 Other observers describe a unique type of mental deficiency with poor motor coordination but an unusual command of language, often resulting in a superficial overestimation of cognitive abilities.3

Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Ioannis Papoulidis ◽  
Vassilis Paspaliaris ◽  
Elena Papageorgiou ◽  
Elissavet Siomou ◽  
Themistoklis Dagklis ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Facial Dysmorphism ◽  
Whole Genome ◽  
Chromosomal Band ◽  
Speech Delay ◽  
Microdeletion Syndrome ◽  
Mild Phenotype ◽  
Dysmorphic Features ◽  
Growth Deficiency

A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

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