Presentation
It is important to note that exceptions may also occur, where individuals with small amount of chromosomal gains, may have disproportionately severe presentations. [dovemed.com]
The present case was a female fetus with a 22.104-Mb duplication of 6q24 → qter and a 0.784-Mb deletion of 20p13 → pter. Morphological abnormalities of partial trisomy 6q according to a review of the literature are shown in Table 1. [journals.lww.com]
However, of the three patients with distal 6p duplication not encompassing BMP6, two presented microcephaly. [mdpi.com]
The common features of patients with distal trisomy 6p, distal monosomy 6q, and both distal trisomy 6p and monosomy 6q are presented in Table 1. [hindawi.com]
We present a comprehensive report of the familial cases and an exhaustive literature review. © 2013 S. [karger.com]
Entire Body System
- Feeding Difficulties
difficulties, use of feeding tubes (temporary nasogastric or gastrostomy tubes), medications, feed thickeners, bottle-feeding expressed milk, including special diets and nutritional supplements Heart abnormalities may require surgical correction in some [dovemed.com]
1 Introduction Partial trisomy of the long arm of chromosome 6 syndrome is a rare chromosomal disorder with distinctive phenotypic expressivity, such as severe physical and mental retardation, hypertelorism, feeding difficulties, and dysmorphic features [journals.lww.com]
He was fed via a nasogastric tube because of feeding difficulty. An electroencephalogram (EEG) revealed normal background activity and no epileptiform discharge. [mdpi.com]
These aspects could suggest a vicious circle that is composed of craniofacial abnormalities that can lead to feeding difficulties with a consequent development delay, immunodepression and infections (ab ingestis pneumonia). [karger.com]
Other findings may include seizures, feeding difficulties, speech delay, intellectual disability, growth deficiency, and hypotonia [5–8]. [hindawi.com]
- Multiple Congenital Anomalies
The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalies, and joint contractures. [docksci.com]
anomalies that were more frequent with multiple cell lines. [ijponline.biomedcentral.com]
- Short Stature
The proband portrayed short stature and microcephaly with developmental delay. [ijponline.biomedcentral.com]
Gastrointestinal
- Failure to Thrive
Of the five cases who survived past term (cases 1–5), four had low-set ears and other ear anomalies and all five had failure to thrive. [hindawi.com]
Chromosome 6q Duplication Syndrome may present complications such as failure to thrive, heart and brain anomalies, mental health disorders, and a reduced quality of life In some children, the condition may be mild and hence can also remain undiagnosed [dovemed.com]
Congenital heart defects, intellectual disability, microcephaly, facial dysmorphism, failure to thrive and various abnormalities in the ocular, auditory and central nervous systems are frequently detected [8]. [ijponline.biomedcentral.com]
Musculoskeletal
- Long Arm
[…] trisomy of the distal long arm of chromosome 6 were diagnosed during pregnancy. [journals.lww.com]
Three of the previously reported patients had duplication for the distal long arm of chromosome 6 owing to translocation with the short arms of acrocentric chromosomes.=5 Essentially these patients show pure duplication of the distal long arm of chromosome [docksci.com]
Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of chromosome 6. [pubmed.ncbi.nlm.nih.gov]
From a comparison of the infant's phenotype with 20 other patients with a similar duplication, it is evident that partial duplication of the long arm of chromosome 6 is a clinically diagnosable syndrome. [jmg.bmj.com]
Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q.” Chromosomes are further subdivided into regions and bands that are numbered. [rarediseases.org]
- Small Head
Such features commonly include an abnormally small head (microcephaly); a narrow, sloping forehead; relatively large, low-set, malformed (dysplastic) ears; and/or a short neck. [rarediseases.org]
Face, Head & Neck
- Hypertelorism
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 [cambridge.org]
1 Introduction Partial trisomy of the long arm of chromosome 6 syndrome is a rare chromosomal disorder with distinctive phenotypic expressivity, such as severe physical and mental retardation, hypertelorism, feeding difficulties, and dysmorphic features [journals.lww.com]
Characteristic craniofacial abnormalities may include a small head (microcephaly); an abnormally flat face and back region of the head (occiput); “almond-shaped,” protruding, widely spaced eyes (ocular hypertelorism); and/or downwardly slanting eyelid [rarediseases.org]
Major features associated either with 6p or 6q terminal deletions include defects of the anterior eye-chamber development, hearing loss, heart malformations, hypertelorism, mid-face hypoplasia, low set ears, developmental delay, intellectual disability [ijponline.biomedcentral.com]
- Short Neck
Multiple congenital anomalies noted at birth included acrocephaly, microcephaly, downward slanting palpebral fissures, telecanthus, micrognathia, short neck with anterior webbing, carp shaped mouth, joint contractures, and club feet (fig 1). [docksci.com]
Such features commonly include an abnormally small head (microcephaly); a narrow, sloping forehead; relatively large, low-set, malformed (dysplastic) ears; and/or a short neck. [rarediseases.org]
neck, and spinal cord and vertebral anomalies [5–8]. [hindawi.com]
- Bulbous Nose
(A) At birth, he presented depressed nasal bridge, bulbous nose with prominent columella and bilateral ear lobe crease. Hemangiomas over bilateral upper eyelids, nose tip and philtrum spreading to upper lip. [mdpi.com]
nose, slightly upturned tiny nares, and thin lips. [karger.com]
nose, microstomia with thin lips, low-set ears, ear anomalies, congenital heart defects, glomerulopathy, and kidney and urinary tract anomalies [1–4]. [hindawi.com]
The facial dysmorphism showed long face, small chin, large protruding ears, slightly upturned eyes, sparse eyebrows, large bulbous nose and thin upper lip (Fig. 1a and b). [ijponline.biomedcentral.com]
- Thin Lips
Affected individuals may also have a small, “bow-shaped” mouth with thin lips, a small jaw (micrognathia), incomplete closure of the roof of the mouth (cleft palate), a large, flat nose; malformed ears, and/or thin, arched eyebrows. [rarediseases.org]
lips, low-set ears, ear anomalies, congenital heart defects, glomerulopathy, and kidney and urinary tract anomalies [1–4]. [hindawi.com]
Neurologic
- Behavior Problem
Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [rarediseases.org]
Features that often occur in people with Chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. [rarediseases.info.nih.gov]
Treatment
and in some cases, due to treatment also. [dovemed.com]
Standard Therapies Treatment The treatment of Chromosome 6, Partial Trisomy 6q is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
To date, the treatment of partial 6p trisomy is symptomatic and requires a multidisciplinary approach. [karger.com]
Prognosis
What is the Prognosis of Chromosome 6q Duplication Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 6q Duplication Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]
Discussion The poor clinical correlation of sSMCs remains a major problem in providing diagnosis and prognosis. [mdpi.com]
Etiology
(Etiology) Chromosome 6q Duplication Syndrome can be caused by: A de-novo duplication of genetic material in the long arm (q) of chromosome 6 (majority of cases) Heritable changes passed from a parent with Chromosome 6q Duplication in which subsequent [dovemed.com]
She has continued to have recurrent gastrointestinal illnesses of unknown etiology. We found the same previously noted physical findings with the addition of hyperopia, striae over the breasts, pubic hair, and scoliosis. [hindawi.com]
Prevention
How can Chromosome 6q Duplication Syndrome be Prevented? Chromosome 6q Duplication Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]