Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

Battaglia, Agatino; Hoyme, H. Eugene; Dallapiccola, Bruno; Zackai, Elaine H.; Hudgins, Louanne; McDonald‐McGinn, Donna M.; Bahi‐Buisson, Nadia; Romano, Corrado; Williams, Charles A.; Brailey, Lisa L.; Zuberi, Sameer M.; Carey, John C.

doi:10.1542/peds.2007-0929

Cited by 233 publications

(309 citation statements)

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“…In patient 17, deletion of the 1pter region was diagnosed by FISH-based subtelomeric investigation. However, the patient's clinical features only partly overlapped the phenotype of a 1p36 deletion syndrome, 34 prompting microarray analysis to further characterize the rearrangement. CNV analysis confirmed a 1.4-Mb deletion of the subtelomeric region of 1p36.33, which was smaller compared with the one usually associated with the 1p36.33 syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Both the size of the deleted segment and the cooccurrence of the duplication could well explain the atypical clinical features of this patient, including distinct facial appearance and absent heart defects and seizures. 34 Interestingly, the Affymetrix SNP platform detected these imbalances, but the CNV overlapping rate indicated that these copy number changes were neutral polymorphisms (Table 1). Recent data suggest that the total genomic content of known common human CNVs in databases is overestimated.…”

Section: Discussionmentioning

confidence: 99%

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High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Bernardini¹,

Alesi

Loddo

et al. 2009

Eur J Hum Genet

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We used Affymetrix 6.0 GeneChip SNP arrays to characterize copy number variations (CNVs) in a cohort of 70 patients previously characterized on lower-density oligonucleotide arrays affected by idiopathic mental retardation and dysmorphic features. The SNP array platform includes B900 000 SNP probes and 900 000 non-SNP oligonucleotide probes at an average distance of 0.7 Kb, which facilitates coverage of the whole genome, including coding and noncoding regions. The high density of probes is critical for detecting small CNVs, but it can lead to data interpretation problems. To reduce the number of false positives, parameters were set to consider only imbalances 475 Kb encompassing at least 80 probe sets. The higher resolution of the SNP array platform confirmed the increased ability to detect small CNVs, although more than 80% of these CNVs overlapped to copy number 'neutral' polymorphism regions and 4.4% of them did not contain known genes. In our cohort of 70 patients, of the 51 previously evaluated as 'normal' on the Agilent 44K array, the SNP array platform disclosed six additional CNV changes, including three in three patients, which may be pathogenic. This suggests that about 6% of individuals classified as 'normal' using the lower-density oligonucleotide array could be found to be affected by a genomic disorder when evaluated with the higher-density microarray platforms.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Bernardini¹,

Alesi

Loddo

et al. 2009

Eur J Hum Genet

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“…This technique is more effective than the multiplex ligation probe amplification (MLPA) method, used to detect other chromosomal alterations when 1p36 deletion was not clinically suspected (D'Angelo et al, 2010). The aCGH method can also be used to determine the break points and measure the size of chromosomal loss (Battaglia et al, 2008), allowing the investigation of genotype-phenotype association.…”

Section: Discussionmentioning

confidence: 99%

“…Monosomy 1p36 is the most common terminal deletion in human beings, responsible for about 1% of all cases of idiopathic mental retardation (Battaglia et al, 2008). Therefore, the objective of this paper was to review the cases of 1p36 deletion syndrome described in the literature from 1999 to 2014, and to correlate the size of the 1p36-deleted segments with the clinical phenotypes.…”

Section: Introductionmentioning

confidence: 99%

Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

et al. 2016

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ABSTRACT. The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms. The objective of this study was to review the cases of 1p36 deletion that was reported between 1999 and 2014, in order to identify a possible correlation between the size of the 1p36-deleted segment and the clinical phenotype of the disease. Scientific articles published in the (National Center for Biotechnology Information; NCBI http://www.ncbi.nlm. nih.gov/pubmed) and Scientific Electronic Library Online (www.scielo.com. br) databases were searched using key word combinations, such as "1p36 deletion", "monosomy 1p36 deletion", and "1p36 deletion syndrome". Articles in English or Spanish reporting the correlation between deletion sizes and the respective clinical phenotypes were retrieved, while letters, reviews, guidelines, and studies with mouse models were excluded. Among the 746 retrieved articles, only 17 (12 case reports and 5 series of cases), comprising 29 patients (9 males and 20 females, aged 0 months (neonate) to 22 years) bearing the 1p36 deletions and whose clinical phenotypes were described, met the inclusion criteria. The genotype-phenotype correlation in monosomy 1p36 is a challenge because of the variability in the size of the deleted segment, as well as in the clinical manifestations of similar size deletions. Therefore, the severity of the clinical features was not always associated with the deletion size, possibly because of the other influences, such as stochastic factors, epigenetic events, or reduced penetration of the deleted genes.

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“…Hasta lı ğın gö rül me in si dan sı 1/5000-1/10000 olup, ka dın-er kek ora nı ise 2/1'dir. 4 Bu sen drom hi po toni nin eş lik et ti ği bü yü me-ge liş me ge ri li ği ve mental re tar das yon (%77), ti pik kra ni o fas yal fe no tip (%77), mik rob ra ki se fa li (%65), bra ki/kamp to dakti li (%90), ka sıl ma lar (%44-58), ya pı sal be yin anoma li le ri (%88), kon je ni tal kalp de fekt le ri (%71), sa ğır lık (%47), of tal mik prob lem ler (%52), ge ni tal (%25) ve re nal ano ma li ler (%22) ile gi den ge niş spek trum lu kli ni ğe sa hip bir sen drom dur. 5 Ol dukça ti pik olan kra ni o fas yal bul gu lar, bi zim ol gumuz da da mev cut olan mik ro-bra ki se fa li, dü şük yer le şim li ku lak lar, düz kaş lar, de rin yer le şim li göz ler, ge niş ve düz bu run köp rü sü, uzun fil trum, siv ri çe ne ya pı sı nı içer mek te olup, ta nı kri te ri olarak da önem li dir (Re sim 1) (Tab lo 1).…”

Section: Tar Tiş Maunclassified

Monosomy 1p36 Syndrome: The First Case Report from Turkey

Karaer¹,

Karaoğuz²,

Perçin³

2011

Turkiye Klinikleri J Med Sci

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280lk olarak 1980 yılında tanımlanan Monozomi 1p36 Sendromu (MIM#607872), 1. kromozomun kısa kolundaki parsiyel delesyon ile karakterize, nadir görülen bir konjenital malformasyon sendromudur. 1 Ağır mental ve büyüme geriliği, mikrobrakisefali, geç kapanan büyük fontaneller, düşük yerleşimli kulaklar, düz kaşlar, derin yerleşimli gözler, geniş ve düz burun köprüsü, uzun filtrum, sivri çene yapısını içeren tipik yüz bulguları sendromun karakteristik bulguları olup, diğer konjenital anomalilerle (konjenital kalp hastalığı, göz, böbrek ve iskelet anomalileri) ve nörolojik bulgularla (yapısal beyin anomalileri, hipotoni, epilepsi) birlikte de seyredebilmektedir.2 Literatürde bugüne kadar Monozomi 1p36'lı 100'ün üzerinde olgu bildirilmiştir. İlk Türk Olgu Ö ÖZ ZE ET T Mo no zo mi 1p36 Sen dro mu, 1. kro mo zo mun kı sa ko lu nun dis tal kıs mın da ki de les yon so nu cu olan, ge nel lik le psi ko mo tor ve men tal ge ri li ğe pre na tal ve post na tal bü yü me ge ri li ği nin eş lik et ti ği, geç ka pa nan bü yük fon ta nel ler ve ti pik yüz bul gu la rı ile iliş ki len di ril miş, iyi bi li nen, na dir bir ge netik has ta lık tır. Bu ra da, yük sek re zo lüs yon lu bant la ma (HRB bant la ma) tek ni ği son ra sı 1p36-pter böl -ge sin de de les yon be lir le nen ve bu de les yo nun flo re san in si tu hib ri di zas yon (FISH) tek ni ği ile te yit edil diği [46,XX.ish del(1)(p36-pter)dn] 16 ya şın da kız ol gu su nul muş tur. Bu su nu, Mo no zo mi 1p36 Sen drom lu ilk Türk ol gu ol ma sı nın ya nın da, kli nik ta nı nın öne mi ni ve kon van si yo nel yön tem ler ile FISH tek ni ği nin bu de les yon sen dro mun da ta nı koy ma da ki de ğe ri ni vur gu la mak ta dır.A An na ah h t ta ar r K Ke e l li i m me e l le er r: : Kromozom delesyonu; monozomi; sitogenetik analiz A AB BS ST TR RA AC CT T Mo no somy 1p36 Syndro me is a well known, ra re ge ne tic di sor der ca u sed by the de leti on in the dis tal part of the short arm of chro mo so me 1, in which pre na tal and post na tal growth and men tal re tar da ti on is usu ally ac com pa ni ed by psycho mo tor re tar da ti on, la te-clo sed lar ge fon ta nels and typi cal fas ci al fin dings. He re in, a 16-ye ar-old fe ma le sub ject con si de red to be Mo no somy 1p36 Syndro me is pre sen ted. A de le ti on was de ter mi ned in 1p36 re gi on af ter high re so lu ti on ban ding (HRB) tech ni qu e. This de le ti on de ter mi ned with con ven ti o nal cyto ge ne tic analy sis was con fir med using flu o res cen ce in si tu hybri di za ti on (FISH) tech ni qu e [46,XX.ish del(1)(p36)dn]. This pre sen tati on emp ha si zes the im por tan ce of cli ni cal di ag no sis in Mo no somy 1p36 Syndro me and the va lu e of con ven ti o nal met hods and FISH tech ni qu e in di ag no sing this syndro me.

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Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

Abstract: These 60 patients with deletion 1p36 represent the largest clinical series to date and provide new information on several aspects of this disorder, which is characterized by neurodevelopmental disability and a recognizable pattern of malformation.

Cited by 233 publications

References 26 publications

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

Monosomy 1p36 Syndrome: The First Case Report from Turkey

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