xyy syndrome: male manifestations, incidence of about 1 / 750-1500 men, more prominent body height, hypogonadism ,
Cryptorchidism may be present. Multiple skin nodules, flexor ulnar joint deformity, arthritis and congenital heart disease . Mild intellectual developmental disorders and impulsive personality defects are also present. The EEG may show diffuse changes. Patients are aggressive, often have antisocial behavior, or violent offenses and imprisonment . Wang Biao, Department of Psychiatry, Shanghai Mental Health Center
Fragile x syndrome: The upper part of the long arm of the X chromosome has only a small connection with the rest of the chromosome and is easily broken. It can lead to mental retardation, ADHD, and global developmental disorder. The physical manifestations include large head, rabbit ears, giant testes, etc. It is not uncommon in children with mental retardation.
Super-female syndrome: including karyotype 47, xxx, 48, xxxx, 49, xxxxx, etc. Super-female syndrome is named because it has 1 to 3 more x chromosomes than the normal female 46, xx. However, their female sexual characteristics are not enhanced, and some of them are infertile. The incidence of 47, xxx is about 0. 05 to 0. 1 %. Some of them have normal children, while others have intermittent amenorrhea and infertility. About 20 % have intellectual developmental disorders. ②48, xxxx : Rarely, they have varying degrees of mental retardation, with small jaws, wide eye fissures, and medial canthus. ③49, xxxxx : very rare, all have severe mental retardation, with wide eye spacing, flat nose, short neck, infantile uterus, sterility, etc.
Super-male syndrome: including 48, xyyy and 49, xyyyy karyotypes. ① 48, xyyy : The incidence is about 1/ 3600. The clinical presentation is similar to 47, xyyy. Male sexual characteristics are not enhanced, but some have hypogonadism, undescended testes, inguinal hernia, pulmonary valve stenosis, poor intelligence, personality and behavior disorders. ②49, xyyyy : The mental retardation is often more pronounced, with facial asymmetry and bilateral cataracts.
Big Y syndrome: karyotype Yq+ (partial trisomy of the long arm of the Y chromosome, also known as Big Y), according to the Institute of Genetics of the Academy of Sciences: among 155 children with congenital hypoplasia, 21 cases (4%) had Big Y, all with significant intellectual disability.