Presentation
Again, an image of the patient is not available in the present report. [spandidos-publications.com]
It is important to note that exceptions may also occur, where individuals with small amount of chromosomal loss, may have disproportionately severe presentations. [dovemed.com]
Treatment is based on the signs and symptoms present in each person. For more information, visit GARD. [rarediseases.org]
The 1p/19q co-deletion as well as chromosome 4 loss were present in all sub-regions and assumed to be clonally present. [genomebiology.biomedcentral.com]
In addition to many of the phenotypic anomalies previously described in interstitial 10q cases, our patient presented with cataracts. [pediatr-neonatol.com]
Entire Body System
- Developmental Delay
Developmental delay was noted at 3-4 months of age. [jmg.bmj.com]
Features that often occur in people with chromosome 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features.[10189] Most cases are not inherited, but people can pass the deletion on to their [rarediseases.org]
Features that often occur in people with chromosome 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. [rareguru.com]
Features that often occur in people with Chromosome 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. [rarediseases.info.nih.gov]
delay; delayed speech development and motor skills; seizures; attention deficit/hyperactivity disorder (ADHD), poor impulse control and autistic behavior. [ivami.com]
- Disability
Features that often occur in people with chromosome 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features.[10189] Most cases are not inherited, but people can pass the deletion on to their [rarediseases.org]
Features that often occur in people with chromosome 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. [rareguru.com]
Features that often occur in people with Chromosome 10q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. [rarediseases.info.nih.gov]
[…] strabismus and short and webbed neck; skeletal problems including scoliosis, limited movement in the elbows or other joints and clinodactyly; genital abnormalities in men such as micropene, cryptorchidism and hypospadias; mild to moderate intellectual disability [ivami.com]
The signs and symptoms observed in individuals with Chromosome 10q Deletion Syndrome include developmental delay, intellectual disability, and distinctive facial features. [dovemed.com]
- Recurrent Infection
Some affected individuals may have kidney abnormalities, heart defects, respiratory problems, recurrent infections or hearing or vision problems. [ivami.com]
Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems. 2. [encyclopedia.pub]
Some people with 10q26 deletion syndrome have kidney abnormalities, heart defects, breathing problems, recurrent infections, or hearing or vision problems. [medlineplus.gov]
- Short Stature
The complications of Chromosome 10q Deletion Syndrome may include: Severe emotional stress for parents and caregivers Delayed milestone achievement Poor growth due to malnutrition caused by weak suckling Short stature Severe intellectual deficiency Inappropriate [dovemed.com]
stature - - - + + + + + - - Facial dysmorphisms Blepharophimosis + + + + + - + - + - Hypertelorism/ epicanthus - - + + + + + + + - Ptosis - - + - - + + - - - Low-set/ malformed ears - - + + - - + - + + Strabismus - - - - + - - + + - Short neck - + + [iamg.in]
(%) Our case Low birth weight <3% 8/32 ‡ Features scored only for patients where specific information was available. (25%) 2/7 (29%) + Short stature (<3rd percentile) 22/33 ‡ Features scored only for patients where specific information was available [pediatr-neonatol.com]
- Malnutrition
The complications of Chromosome 10q Deletion Syndrome may include: Severe emotional stress for parents and caregivers Delayed milestone achievement Poor growth due to malnutrition caused by weak suckling Short stature Severe intellectual deficiency Inappropriate [dovemed.com]
Respiratoric
- Delayed Speech Development
delayed speech development and motor skills; seizures; attention deficit/hyperactivity disorder (ADHD), poor impulse control and autistic behavior. [ivami.com]
Eyes
- Strabismus
Strabismus was observed in 18 out of 27 terminal deletion cases (67%), but our patient presented with a cataract on the left side without strabismus. [pediatr-neonatol.com]
[…] deletion syndrome vary widely among affected individuals and may include: distinctive facial features such as a prominent or pointed nose, wide nasal bridge, micrognathia, malformed lower implant ears, thin upper lip, microcephaly, hypertelorism with strabismus [ivami.com]
Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Some people with this condition have a short neck with extra folds of skin (webbed neck). [encyclopedia.pub]
A dysmorphology examination performed at 4 months of age was significant for a height of 54.4 cm (<3rd centile), weight of 5.1 kg (<3rd centile), occipitofrontal circumference 40 cm (−1 SD), large anterior fontanelle, strabismus, mildly downward slanting [jmg.bmj.com]
Ears
- Low Set Ears
Despite the variation of symptoms, some features are consistently seen, such as facial dysmorphisms characterized by a broad nasal bridge with beaked or prominent noses, strabismus, malformed and low-set ears, hypertelorism and facial asymmetry. [pediatr-neonatol.com]
The commonly noted signs and symptoms of 10q Deletion Syndrome include: Developmental delays Distinctive facial features may include: Small-sized head with large forehead Flat nose Low-set ears Eyes set inside deep sockets Cleft lip and palate Feeding [dovemed.com]
It is characterized by a high and large forehead, round and flat face with flat nasal bridge, epicanthic folds, hypertelorism, fine eyebrows, antimongoloid slant of eyes, low-set ears, cleft palate, micrognathia, short nose, bow-shaped mouth, microcephaly [iamg.in]
Craniofacial features of 10q26 deletion syndrome, including a high and narrow palatine arch, a triangular-shaped face, low-set ears, hypertelorism, strabismus, a broadly prominent nose and micrognathia, were observed. [spandidos-publications.com]
- Hearing Impairment
However, 7 out of 10 patients from the current and previous studies that had distal 10q26 deletions overlapping this common 2.5 Mb region did not exhibit hearing impairment. [spandidos-publications.com]
Evoked-response audiometry revealed a left sensorineural hearing impairment (hearing loss: left: 65 dB). Development has shown a global delay. [pediatr-neonatol.com]
Musculoskeletal
- Long Arm
Deletion mapping of the long arm of chromosome 10 in glioblastoma Multiforme. Genes Chrom Cancer 7:173-177. 24. [escipub.com]
Discussion Our patient carries an interstitial deletion in the long arm of chromosome 10 from band q22.1 to q22.3. Because 10q22.2 is lost, the deletion leads to juxtaposition of 22.1 and 22.3, resulting in a broad light band (fig 3). [jmg.bmj.com]
Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases. [pediatr-neonatol.com]
Synonyms Deletion 10q Monosomy 10q 10q deletion 10q monosomy Partial monosomy 10q Overview Chromosome 10q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 10 [rarediseases.org]
Description Chromosome 10q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 10. [rareguru.com]
- Small Head
Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). [encyclopedia.pub]
- Short Arm
Each chromosome is “X” shaped with a center, called the centromere, and two short arms (termed p arms) and two long arms (termed q arms). Humans have 46 chromosomes in the cell nucleus, in 23 pairs, of which one pair is named the sex chromosome. [dovemed.com]
Face, Head & Neck
- Hypertelorism
The most striking clinical features of this patient are ocular hypertelorism, downward slanting palpebral fissures, posteriorly rotated ears, developmental delay, and growth deficiency. [jmg.bmj.com]
Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. [avesis.gazi.edu.tr]
[…] symptoms of 10q26 deletion syndrome vary widely among affected individuals and may include: distinctive facial features such as a prominent or pointed nose, wide nasal bridge, micrognathia, malformed lower implant ears, thin upper lip, microcephaly, hypertelorism [ivami.com]
Many affected individuals have widely spaced eyes (hypertelorism) that do not look in the same direction (strabismus). Some people with this condition have a short neck with extra folds of skin (webbed neck). [encyclopedia.pub]
- Short Neck
Figure 2: Clinical photograph of the patient showing oval face, midface hypoplasia, short nose, short neck, low posterior hair line and protruding thick lower lip. [iamg.in]
Some people with this condition have a short neck with extra folds of skin (webbed neck). Less common signs and symptoms can occur in 10q26 deletion syndrome. [encyclopedia.pub]
- Broad Nasal Bridge
Facial features of people with 10q26 deletion syndrome may include a prominent or beaked nose, a broad nasal bridge, a small jaw (micrognathia), malformed ears that are low set, a thin upper lip, and an unusually small head size (microcephaly). [encyclopedia.pub]
Other manifestations, such as prominent nose, broad nasal bridge, large or malformed ears, cryptorchidism, and joint abnormalities were also noted in both interstitial and terminal deletion groups. [pediatr-neonatol.com]
Urogenital
- Cryptorchidism
[…] implant ears, thin upper lip, microcephaly, hypertelorism with strabismus and short and webbed neck; skeletal problems including scoliosis, limited movement in the elbows or other joints and clinodactyly; genital abnormalities in men such as micropene, cryptorchidism [ivami.com]
Males with this condition may have genital abnormalities, such as a small penis (micropenis), undescended testes (cryptorchidism), or the urethra opening on the underside of the penis (hypospadias). [encyclopedia.pub]
Other common features are growth retardation, psychomotor delay, learning disabilities, cryptorchidism in males, genital defects, and digital anomalies such as clinodactly and syndactly. [pediatr-neonatol.com]
Neurologic
- Seizure
[…] elbows or other joints and clinodactyly; genital abnormalities in men such as micropene, cryptorchidism and hypospadias; mild to moderate intellectual disability; growth problems and developmental delay; delayed speech development and motor skills; seizures [ivami.com]
Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction. [encyclopedia.pub]
[…] swallowing difficulties, vomiting, and gastroesophageal reflux disease Hearing and vision impairment Poor muscle tone (hypotonia) causing motor delays that can be mild or severe Difficulty in climbing stairs and difficulty in sitting without support Seizures [dovemed.com]
There was no history of seizures, gastrointestinal symptoms, cardiac symptoms or frequent infections. He was studying in the 9th standard and had learning difficulties. [iamg.in]
- Hyperactivity
[…] clinodactyly; genital abnormalities in men such as micropene, cryptorchidism and hypospadias; mild to moderate intellectual disability; growth problems and developmental delay; delayed speech development and motor skills; seizures; attention deficit/hyperactivity [ivami.com]
Affected individuals may experience seizures, attention-deficit/hyperactivity disorder (ADHD), poor impulse control (impulsivity), or exhibit autistic behaviors that affect communication and social interaction. [encyclopedia.pub]
However, mild ID and hyperactive behavior were observed. [spandidos-publications.com]
- No Speech Development
This process can be inherited or developed due to a new chromosomal change. [ivami.com]
- Delayed Milestone
The complications of Chromosome 10q Deletion Syndrome may include: Severe emotional stress for parents and caregivers Delayed milestone achievement Poor growth due to malnutrition caused by weak suckling Short stature Severe intellectual deficiency Inappropriate [dovemed.com]
Treatment
and in some cases, due to treatment also. [dovemed.com]
Treatment is based on the signs and symptoms present in each person. For more information, visit GARD. [rarediseases.org]
Treatment is based on the signs and symptoms present in each person. Source: GARD Last updated on 05-01-20 Symptoms Symptoms and their Known Frequencies We're currently performing maintenance on our symptoms information from GARD. [rareguru.com]
The observed variability in postoperative treatment can be attributed to the lack of a standard of treatment for these patients. [genomebiology.biomedcentral.com]
Other characteristics were MGMT promoter methylation status, cycles of temozolomide treatment, survival time in days after treatment, and patient status at the last follow-up (dead or alive). [frontiersin.org]
Prognosis
What is the Prognosis of Chromosome 10q Deletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 10q Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]
However, this is highly subjective and is not predictive of prognosis. [neurologyindia.com]
Sasaki H,, Zlatescu MC, & Betensky RA, et al: PTEN is a target of chromosome 10q loss in anaplastic oligodendrogliomas and PTEN alterations are associated with poor prognosis. [thejns.org]
Despite these variations, distal 10q loss (including whole chromosome losses) was significantly associated with an unfavorable prognosis in the discovery, validation and confirmation cohorts. [genomebiology.biomedcentral.com]
Loss of Heterozygosity at 10q in Tumors of the Upper Respiratory Tract Is Associated With Poor Prognosis. [frontiersin.org]
Etiology
As one progresses from area of the lung and bronchus away from the tumor to areas proximate to the tumor, the 10q deletion rate increases in a statistically significant fashion, supporting an etiologic role of these deletions. 10q deletions in bronchoscopically [jto.org]
In children with cataracts, the etiology may be inherited, stem from a metabolic disease, or be associated with systemic abnormalities, but in most cases, the etiology is unclear. [pediatr-neonatol.com]
(Etiology) The causes of Chromosome 10q Deletion Syndrome may include the following: A de-novo deletion of genetic material in the long arm (q) of chromosome 10, which is the most common reason for the disorder Rarely, inheritance of the condition from [dovemed.com]
Epidemiology
Medicine, University of Texas, MD Anderson Cancer Center, Houston, 77054, TX, USA Roel GW Verhaak Department of Bioinformatics and Computational Biology, University of Texas, MD Anderson Cancer Center, Houston, 77230, TX, USA Roel GW Verhaak Department of Epidemiology [genomebiology.biomedcentral.com]
Pathophysiology
All of these could be the potential mechanisms and the pathophysiological consequences that underlie allelic loss of ADD3 in malignant gliomas, particularly during disease progression. [frontiersin.org]
Prevention
How can Chromosome 10q Deletion Syndrome be Prevented? Chromosome 10q Deletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]
J Med Genet. 1989; 26: 58-60 World Health Organization Prevention of childhood blindness. World Health Organization, Geneva1992 Furuya T. Morgan R. Berger C.S. Sandberg A.A. [pediatr-neonatol.com]
Personalized timing of postoperative treatment is crucial to forestall progression in the latter group whilst preventing long-term side-effects for patients with more favorable prospects [2]. [genomebiology.biomedcentral.com]